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I have had IP since I was born in 1947. I am 62 at present and have tremors in my left arm. They started about 6 years ago and when they started were mild but have increased throughout the years. Is this related to IP at this late of date? Is there anything that I can do to treat this as it is affecting my motor control. Will it affect other motor skills? I am left handed so I can't keep food on my fork and get it to my mouth without the food falling off the fork/spoon. Thanks for your time. View Answer |
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2009-11-03 |
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I have a birthmark on my face while my 2 year-old child has a hemangioma on her right leg. Her hemangioma is quite big. It affected the front part of the her with the center of the hemangioma located on her knee. It is not embossed. It is insider her knee.
I am planning to get pregnant again but I am really worried that my second baby will have a hemangioma just like my first baby. What is the probability that my second baby will also have a hemangioma? Please help. View Answer |
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2009-11-02 |
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Ocular Albinism runs in my family. My son has it and my daughter is a carrrier. My daughter is considering having a child and I was wondering if there were any advancement in locating the gene and removing it so that her child would not be affected by this disease. Also, is there any advancements or treatment of ocular albinism that my son could benefit from. Thank you. View Answer |
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2009-10-27 |
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My 4 months old daughter was recently diagnosed with Albinism. The eye specialists are however unsure whether she has got Ocular or Oculocutaneous Albinism. Some suggested a genetic test to determine the type of Albinism. I don't want to put my little girl through too many unnecessary tests. Hence, is there any advantage of knowing which type it is in terms of treatment,...? How accurate are those tests? What do they involve?
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2009-09-22 |
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I have had aquagenic urticaria since I was a baby but was misdiagnosed my entire entire life for being allergic to everything even zippers! In the last couple of years I finally got my condition diagnosed and suffer from systemic aquagenic urticaria as iv fluids cause me to break out in blisters and hives as well. I am also allergic to my own body fluid when they contact my skin. I take Atarax every day to combat the majority of these reactions and it truly has helped for the most part. My son was just recently diagnosed with it to although his reaction appears to be non systemic at this point ( he has just recently started reacting). I have another child and I would like to know what the probability is that she might also suffer from this as I don't seem to fit most of the literature that I can find that describes this condition. Is this then genetic since my son now has a form of it although not from birth and aparently to a lesser degree? View Answer |
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2009-09-16 |
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I have a birthmark/mole on the middle of my nose, slightly to my right side. People say lesions are not genetic but I have traveled a lot and noticed many people have this, for example people of Balkan, Eastern, even Turkish, and Indian origin. Do all these people share a common ancestor who had this specific phenotype (eg Genghis Khan)?
PS Please email answer back View Answer |
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2009-09-07 |
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Is there a genetic test to determine if someone is a carrier for the recessive ocularcutaneous albinism gene? How reliable / sensitive / accurately is the test and is it widely available? View Answer |
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2009-08-30 |
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One of my second grade students has ocular albinism. Are there things that I can do to help him in the classroom environment? View Answer |
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2009-08-23 |
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I am 17 years old and married to my 1st cousin. Last year I gave birth to a baby girl that had severe HARLEQUIN ICHTHYOSIS she past away after 30 days because of an infection. I had her at 34 weeks of pregnancy. This year I had a baby boy with the same disease but he wasn't that severe. I had him at 30 weeks of pregnancy but he only lived for 11 days. He died becaue his heart just suddeny stoped. I just want to know if there is a way that I could know that my next child will have this disease or not. Because in my last two pregnancies every doctor said everything is normal. Please help me I am very desperate. I really need your help I dont know if I could do this again. Please reply with help!!! View Answer |
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2009-08-09 |
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I am a mother of three girls, first born are twins and normal, am an african so too my husband. We do not have any albinism family backgrounds, but to my surprise my second baby born in April this year has this albinism condition, which is believed to be ocucultaneous. She was born with white hair, skin and blue eyes. Lately the hair is changing to gold. She is now three months and two weeks.
My question is what really happened or to us since our first born are normal black african twins. And is there any hope that my daughter will change as she grows old? Or else her skin problems will not be severe as it is in other cases of albinism? Please advise accordingly. View Answer |
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2009-08-05 |
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My first husband is decreased and died from complications of epidermis bullosa at age 34. Our son is now expecting his first baby, and although he appears not to have this condition, but does have severe psorasis; I worry that he could possibly be a carrier of epidermis bullosa. My new daughter-in-law suggested I come to the dr. with her and explain my concerns--which I do plan on doing. When my first husband and I went to a genetitis when we were expecting, he told us our child had a 50/50 change of being born with the disorder. Is there better tests now to determine if an unborn child may have this condition and are there any supplements that the mother can take to help prevent it? Help, the dr. appt. is next week and I really would like some assistance to put our minds at ease. Thank you, concerned grandma-to-be View Answer |
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2009-07-29 |
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Myself,3 younger brothers and a younger sister where all born with full blown HED. My question is how can you get your hair to grow.I refuse to where wigs.What can you do to make it stronger. View Answer |
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2009-07-29 |
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I'm a woman who has ocular albinism 1 and im the only person in my family that has it. My Question is that im pregnant so what are the chances of my children having ocular albinism? Will my sons or daugters be more eficted? View Answer |
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2009-07-13 |
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Most of my great aunts and uncles on my grandfather's side of the family (there are 13 in all and about 7 have the condition) have ectodermal dysplasia of the hair and nails. The condition was passed from them to their children (some of my cousins). However, my grandfather does not have the condition nor do my mom or dad. Am I at risk of passing it to my children? Would an inherited condition such as this skip generations?
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2009-06-28 |
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Hi,
Since harlequin ichthyosis is caused by a mutation in the ABCA12 gene, is it possible to somehow use a viral vector with a normal copy of the gene to infect affected babies so that the condition stops being as severe? I know that due to the large amount of cells in a baby, it is probably impossible to cure the baby completely of this condition, but is it possible to get at least some normal skin cells to be produced?
Has anyone ever experimented on mice or Drosophila to infect them with a normal copy of a gene and somehow knock out the mutated version of the gene?
If papers were published about this kind of research, where do I find them (NCBI produced some confusing results, and I'm unsure of how to interpret them)?
I'm sorry for these questions being extremely stupid (they probably were), but I need the answer as detailed and complicated and long as is reasonable, for my summer project paper (why do they assign these horrid things, I'm only in high school!).
Thank you. View Answer |
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2009-06-27 |
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Dear Sir/Madam
I am writing this e-mail on behave of my friend and her daughter who living in Poland. Daughter is currently 19 years old has been battled with Derier?s disease for seven years. She has this disorder after her father whose outbreaks were not as often or as bad as hers. She is very young and an energetic teenager who is looking for help on how to treat her condition. For the first few years she has been on NEOTIGASON (Acitretinum) ? which worked very well for but at some point lost effects. Other medications that were prescribed by doctors are: TETRALYSAL (Lymecyclinum) and IZOTEK (Isotretinoinum). On their behalf I would like to ask what treatments are currently available to treat this condition and if there are any other forms of medication that is effective and may help to easy her condition.
Thank you very much,
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2009-06-25 |
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my wifes brother has oculocutaneous albinism. what is the possibilty that our child will have the condition? my wife is normal. View Answer |
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2009-06-25 |
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My child has OCA1A and I am pregnant with a son. If I am the carrier for OCA1A does that mean my son could have OA because it is an X linked gene mutation? I am due in October and I wanted to know if he had the chance of having similar problems to his sister. View Answer |
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2009-06-23 |
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I was wondering if you could give me some information on passing on Incontinentia pigmenti. My wife has a very mild case of IP presenting as a few dark swirls and slight discoloration of her teeth. We are thinking of having children and were beginning to wonder what the risks were. She has no family history of IP and of course I do not either. I saw the the odds ratio were 1:40000 but assume that the children of a carrier are much higher as well as the fact that most males don't survive. Thank you for any information.
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2009-06-07 |
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Hi
My brother wants to marry with a girl whose some cousin have albinism. She is probably carrier. In my family there is not this disease. There is not any consanguinity between us, but our ancestors have lived in our neighborhood for a long time. In my home country, there is not test of carrier detection for Albinism. I would be very grateful, if you could give me some advice. Thank you in advance
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2009-06-01 |
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My Husband has Hypohidrotic ectodermal dysplasia no one in his family has this and he only has a very mild case of this he is only missing 4 teeth his two front ones on the bottom and his 2 eye teeth.but to get to the question i wanted to know what were the chances of our children having this, and how serve the symptoms might be? View Answer |
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2009-05-04 |
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Hello,
My husband and I just had our first child together this past new years. We are all fine but I noticed for the first time in my life I got Eczema. Now my husband has had this same skin problem but after I had the baby I started to have it.
I heard from a friend that it may have something to do with stem cells and the post pregnancy. Could that be true?
Is it possible that because we had a baby together that I could some how "inherited" this skin condition from my husband? View Answer |
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2009-04-19 |
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The subject of this question is 5y old girl. Is it possible or helpful to test her Filaggrin gene?
She has been diagnosed with eczema and asthma. Medicines given do not seem to work. I have kept her away from all known allergens, food etc. and it is getting worse.
By doing some research her skin look like Ichtyosis is involved.
I do not like bombarding her system with steroids, will this Filaggrin mutation test help? View Answer |
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2009-04-17 |
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My son is 14 years old. At nine months old he was diagnosed with sever eczema. His eczema has never cleared up unless he is on prednisone. He currently sees a pediatrican, dermatologist, infectious disease and allergy doctor. Several of his doctors believe he may have Job's syndrome but he has not been tested for it. He has sever staph infections in his skin and currently takes anibiotics daily. He has never lost a baby tooth on his own we have pulled them or the dentist has. He has had pneumonia about 7 times since he was born. However he doesn't have the facial charateristics of this syndrome. I took my son to Duke Hospital to be tested for this syndrome but the doctor didn't test him because he didn't have the facial charateristics. Should I have him tested for it anyway just to be sure? His pediatrican thinks he is just not as sever as some of the cases seen. I am only asking because I will have to fight with the insurance to have this done. Thank You. View Answer |
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2009-04-10 |
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I just read your response that said urticaria and mthfr are unrelated. Not true!
I suffered from chronic urticaria for 10 years. I had outbreaks of hives up to 87 times/month.
Once my Doctor did a genetic test, told me I have 2 mthfr gene mutations, and took me off of folic acid in my multiple vitamin, my hives disappeared and have been gone for 9 months.
I now take a multiple vitamin that contains FOLINIC acid and my quality of life has greatly improved. View Answer |
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2009-04-04 |
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I was born with a bilateral cleft lip and palate and ectodermal displaysia. I was just wondering what the liklihood of me having a baby born with the same might be. View Answer |
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2009-04-02 |
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I am an American physical therapist working for a humanitarian organization in the disability sector in Niamey, Niger.
This past week, we saw a 5 month old baby with a severe skin condition and facial deformities that has us seriously puzzled. The baby was born completely covered with very black leathery skin (slowly sloughing off), underdeveloped eyelids, slight finger flexion contractures and a mouth that does not properly close and stays in an ?O? form.
I have done some research to try and find a diagnosis and finally yesterday came upon harlequin ichthyosis. So far, this is the pathology that seems most consistent with her symptoms.
Would you be willing to look at photos of this baby to give your opinion if this could be the correct diagnosis and if so, recommendations how we may be able to help her?
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2009-03-29 |
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My brother's daughter, 15 months, has been diagnosed with not having any baby teeth at all. Her twin sister has teeth that is age appropriate. The condition was told to me to be extrodermal dysplasia. (I may have not spelled it correctly). I am just helping my brother try to locate more information on this disease. They do live in the Atlanta, GA area. We will appreciate any information give. View Answer |
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2009-03-28 |
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Hello,I am from Slovakia. I am 55 years old and I have been struggling with Morbus Darier since I was 14 years old. This diagnose was two times confirmed by taking me a sample of my skin. Darier hit in my case only whole right part of my body from the neck to knee. The left side is clear. In the past I was taking already two times Tigason, but for the huge scale of side effects I had to stop the cure. At this moment I take already one week Neotigason, but still can not see
any positive results. I would like to know what kind of positive results have been noticed by taking these pills in your research and for how long the positive results will approximately stay. I do not know anybody whom to share information with or obtain any. I would like to kindly ask you to advise me the most successful cure for
this kind of disease or provide me any other information you have about Darier disease. I would appreciate any reply from you. View Answer |
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2009-03-25 |
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I was wondering what this meant and if it is connected in any way: the word helix and the #5...I have started having dreams for the past year about my DNA. I know this all sounds very crazy, but I'm just curious what to make of it, and my 1st dream was tied to my DNA containing the cure for something called ebola virus, but not really sure what that is either.
I have an autoimmune thing called cold urticaria, but didn't start breaking out till after my second kidney surgery. Is that something that you are born with or could it have been caused by the kidney surgery? View Answer |
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2009-03-25 |
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I am a young man from Orlando, Florida who has recently developed problems with my skin, particularly on my face. I come from a family who struggles badly with cancer and acne and I guess I wanted to know if it is possible for me (as a black person) to catch skin cancer. As silly as it may sound-I have been experiencing a lot of abnormalities with my skin and have in fact become agoriphoebic because of them. My skin changes complexion quite often throughout the day; sometimes I'm dark brown, sometimes medium brown, and at other times my skin almost looks transluscent. My skin has begun to look like it has been burnt with fire. Could this be cancer? View Answer |
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2009-03-08 |
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How many people out of 10,000 have Pachyonychia Congenita? View Answer |
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2009-03-02 |
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I am a carrier of the condition x-linked ichthyosis. I was diagnosed while I was pregnant with my son. I had low estriol during my maternal triple screen and an amnio confirmed that he has the condition. it is a very mild case and he is doing well. I am currently pregnant again and my estriol came back normal this time. Is this child a girl because my estriol came back normal or is there a possibility that we will be having a boy without the condition? Just curious how the genetics work with this condition. View Answer |
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2009-02-26 |
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Patient is a 17 year old boy.
are there any treatments for epidermolysis bullosa ( Dystrophic, dominant). It is fairly mild, but he scars easily and wants to know if there are any treatments, vitamins etc that might help.
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2009-02-16 |
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do you know of many people with darier's disease that had any children by birth? i am planning to try after may View Answer |
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2009-02-16 |
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I am a mom of 3 children, my middle son has Hypohidrotic Ectodermal Dysplasia, the oldest, a daughter and the youngest another son are not affected. I'm thinking about another baby and I have alot of questions, our youngest came along before we had a diagnosis and so we didn't have this consideration before. Since there are 150 types of ED am I a carrier for all 150 types or b/c my son has HED that's the only type I carry? What is the liklihood if I have girl that she would be affected with ED? Is there testing that can be done before the baby is born to tell us if the baby has ED? View Answer |
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2009-02-14 |
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I have been diagnosed with Incontientia Pigmenti since I was little, and my daughter started showing signs on the skin discolorations at around 6 mos. She is now almost a year and anytime she has a fever or gets sick the markings swell up and redden(like the look at first onset) and then she seems to have more and more marks appear the longer she has a fever. At first I didn't think they were related but this is her 3rd time being sick w/high fever(stomach virus) and her IP marks have almost doubled! Is this really related and if so can this be expected to continue whenever she gets sick? Also, have the skin discolorations ever been known to spread onto the facial area, her's or mine have not but I was just curious. She's very healthy other then the skin markings, so far no other complications from IP, just like me. Any info would be appreciated! View Answer |
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2009-01-30 |
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hi, when i was pregnant with my first son i had an amino which showed my son had a male karyotype with an apparently balanced paracentric inversion of the long arm of one chromosone 18. after testing both me and my husband he also had the same and were told it didnt mean anything we have just had our second child and did not get tested as it didnt mean anything but he was diagnosed at 6 weeks with albinism oca1 and we wanted to know if this was linked to what my husband and first son has and if it is does it mean anything.
thankyou View Answer |
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2009-01-28 |
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Hello,
I have Darier's Disease. I come from a very large family of 9, and my mother is the carrier. My mother also came from a very large family and at least 50% had the disease. Only 3 out of 9 children in my family have the disease; however, all 9 have the defective gene. My younger brother, who does not have DD, wants to have children but is concerned about his children getting DD. Even though he does not have DD but has the defective gene, does this mean there is a 50% chance his children can get the disease? Would a gene test determine this? The disease in my family and siblings has been severe with deaths so that's why my brother is concerned about passing it on to a child. Is this something you can answer? If not, can you please direct me to someone who can answer the question? Thank you for your time. View Answer |
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2009-01-11 |
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I was just wondering about a birthmark that was on my daughters upper head when she was born. They said it was from her lyin in my belly with her hand on her head resting and when she was born it left that mark. She is now 4 years old and i notice that her hair is a dark blonde but in that spot where the birthmark is it is a lot darker and it seems kind of wirey. Is that normal or what is it? Thanks View Answer |
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2009-01-02 |
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Can i marry a boy whose father has vitiligo? View Answer |
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2008-12-22 |
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can occular albinism {type i} i assume, because is no hearing loss, improve with age? the individual is
51yrs. of age.....
thank you View Answer |
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2008-12-08 |
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If I have psoriasis and my husband has vitiligo, how likely is it if we have children that they will inherit one of these diseases? View Answer |
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2008-11-04 |
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Can you please let me know if there is any research showing there might be a connection between having psoriasis (I have it) and having a baby with harlequin ichthyosis? I read there are studies which are trying to find out if there is a connection. Does there seem to be? Are there cases of parents with psoriasis that have babies born with the harlequin ichthyosis disease? Please advice. View Answer |
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2008-10-21 |
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Hi there,
my question is about Albinism. i am an african lady. i am very light skinned and my hair is brown (not black. although its black in some places, its predominantly darkish brown). i am not sure if i have a form of albinism. my parents and siblings are dark-skinned and there are no albinos in my family as much as i know.
My question is regarding my second daughter. she was born about 3 weeks ago. she is very fair skinned and was born with jet-black hair. but after about 10 days her hair started turning brown. her eyebrow aalso started growing brown (and whitish hair). her side burns and facial hair is also white.
does she have albinism? why is her changing color, seeing that she was birn with black hair? what can i do to make her hair black again?
as an aside, my 1st daughter isdark haired and dark skinned like my husband. i only have 2 children.
Thanks a lot for your help. View Answer |
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2008-10-08 |
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I am blonde, blue eyed and have very fair skin. I also have white patches ( which I was born with) on both legs and on my stomach. The patches are large and are like bands around both my legs and across my stomach. I also have a white patch of hair in the front of my hairline that I didn't notice until I was mid teens. I gave birth to my son in 1982, he has almost white hair, bright blue eyes, light skin but tans nicely. He has a large white patch down the underside of both arms, on his stomach larger than a dinner plate and over a third of both legs he has these white bands. Now my son has had his first child and he is blonde with blue eyes but tans nicely he has a large white spot on one of his legs and on his stomach. No one seems to know what this is. We are born this way it does not happen later on in life therefore, I believe it is genetic. Can you please help me with any and all information that you may have? View Answer |
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2008-09-23 |
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My son has Congenital Nystagmus.He is now 12 years old.This was diagnosed when he was 8 months old.The doctor also said that it is from Ocular Albinism.His eyes are not pale, but a hazel color and he has sandy blonde hair & tans quite well. Ocular Albinism would cause at least pale eyes, wouldn't it? I just can't find enough information on the internet. The sites that I have found most useful are in the UK. However, I have no idea where to look to on finding out what we should do for him.He goes to a specialist every year and all he tells us is that his condition is still the same.What about driving, and work when he gets older?What about going in to the military?Is he qualified for disability and should we be taking that route?I just don't know... View Answer |
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2008-09-13 |
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Myself, two of my children, and four of my grandchildren have Ectodermal Dysplasia. My grandaurghter has just started high school and I am having a hard time explaining her condition. They want exact temps that she allowed in and exact time she can be in them. I can't get them to understand that she gets over heated even in the winter time. It all depends on what she is doing. My question. Are there any study that address this. View Answer |
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2008-09-12 |
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wat is the possibility of my future nieces or nephew to inherit this hypohidrotic ectodermal dysplasia?wat about my future daugther or son, we'll they have this kind of disorder too?
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2008-08-23 |
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I was diagnosed with Incontinentia Pigmenti as a young child, the only symptoms i have are very mild skin discolorations and was born missing my wisdom teeth. i have had no other problems and am now 22. I have a baby girl who is 6 months, last month she began showing the same skin discolorations classic to IP, she never went through the blistered stage just like i never did, she went straight to the linear and spotty marks slightly darker then her skin color on her legs, arms and trunk. My question is, since my condition is so mild and she is just now showing these markings, does she still have a chance of having any more serious symptoms or do those usually happen at birth? Her pediatrician didn't seem worried and just told me to keep an eye on her but didn't say whether or not her condition could one day be as bad as becoming mentally retarded and delayed or seizures and such things. She is developing normally, even ahead of schedule in some areas, should I be worried for the future? View Answer |
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2008-08-22 |
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I was diagnosed with Dariers in the early 90's when i was about 10 and dermatologist at first wasnt sure what it was, but after many different testa and science labs or thats what it seemed like at the age of 10. Now 25 no health insurance and no way of finding out about my mothers medical history or anything i need to know what products there are over the counter than help! i haqve tried amlactin BAD IDEA i broke out so bad from that i never wanted to try anything again. and how do i know what i can and cant use? really i just need some help in all aspects of this disorder! View Answer |
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2008-08-03 |
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Hi, my husband has a very mild case of Epidermolytic Hyperkeratosis. His condition seems to affect his joints & appears as though he has gotten sunburn & is peeling. His father & grandfather also have the condition, but it is slightly worse. With children on the horizon, I am terrified that this condition will affect my kids. What are the odds of this condition being passed on, and what is the likelihood that it would be worse in our children? Is this type of condition reason enough or bad enough that we shouldn't consider children of our own? Is a visit to the geneticist warranted? Thank you in advance for your advice. View Answer |
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2008-07-24 |
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I have a mild dermal disorder. I am very prone to stretch marks when I work out (weight lifting, age 18). I have a identical twin brother with the same symptoms. I also have developed premature wrinkles on my mid neck, neck/chest intersection (turkey neck) (age 24). I also have wrinkles on my wrist and knee. I just developed two stomach wrinkles (age 28). I also have stretch marks on my thighs from sitting for medium to long periods of time. I have of normal weight (170, 5 10). I have no heart or internal problems, just dermal. I went to the geneticist and they told me I don't have anything that has been classified yet. I really want to understand why I have these things. Any idea what I should do? Any researchers I could contact? Heard of any other cases like mine? I find my condition kinda disfiguring and I refuse to live the rest of my life withouting fighting. View Answer |
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2008-06-29 |
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Apparently, from baby photos, I was born with 1 blue(L) + 1 dark brown(R) eye. We're unsure when it occurred, but my blue eye started to turn light brown before about 6-7yrs, now full light brown and the other dark brown. Theres a tiny brown spec in the L eye.
I have a receding alopecia? like hairline, seemingly from birth which has not progressed further (Im 21 now). Also diagnosed with twenty nail dystrophy. Apparently terrible colic/IBS as a baby. Still some problems with indigestion and can't gain weight easily (av 9.5- 10 st at 5ft7). Skin odd in terms of rashing, not diagnosed as a skin disorder, although was referred to as excema by family. Also have exercise asthma + dust/animal (particularly severe to horses) allergies (which flare the asthma).
I thought these may be linked, particularly twenty nail, alopecia?, stomach + heterochromia. Do you think so?
What do you think caused the left iris to change from blue to light brown?
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2008-06-15 |
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Hello, I read a lot of articles about albinism. I have question about "How do people inherit oculocutaneous albinism?
Each of the four types of oculocutaneous albinism is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition."
Is there a possibility of spontaneous mutation De nova that can result in albinism. I have two cousins with albinism, but it seems to me that they look little bit different, I would say different degree of severity.
Thank you.
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2008-06-03 |
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My question is about EB simplex. This condition has been passed down from my maternal grandfather. I don't know about anyone before him, but every single child born in this line has the condition including both siblings of my grandparents (my mother and aunt), each of their children, and also my children and my sister's children. This is certainly an incredibly dominant gene. I noticed the condition in my daughter at about 2 months of age when I discovered blisters around her legs where her diaper seemed to rub. Otherwise, our condition is primarily localized to the feet where trauma is most concentrated. My question: Can someone with EB simplex pass on any other version? (Dystrophic, Junctional) The simplex version is somewhat controllable. The other versions would be devastating. Also, I feel that I may have symptoms of fybromyalgia with tenderness in several points on my body. Is there any relation between fybromyalgia and EB? View Answer |
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2008-05-10 |
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I have an eleven year old son with HED. It was passed from my father-in-law to my wife then to my son. I also have a 20 year old daughter. She doesn't show any signs of HED like my wife. My wife has the small teeth, sparse body hair and thin hair on her scalp. Here?s my question. My daughter is expecting a baby, what are the odds that she will have a baby affected by HED? View Answer |
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2008-05-02 |
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I have a condition of hypohidrotic ectodermal dysplasia and am male. My question is if i get married and have children either girl or boy, will my x-chromosomes passed down to them or if not, could you explain to me in simple words as possible how does this hypohidrotic ectodermal dysplasia get passed down? Also, i have 3 sisters that are probably carriers, but if they bore only males, will it stop the conditions since females are the one who are carriers? View Answer |
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2008-04-22 |
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Is it possible for a white husband and wife to have a child (boy) with darker skin? My husband is of German descent with fair skin (nothing known of extended family)and light eyes. My father is Irish and my mother is English/French; I am told my paternal grandfather is Irish with a dark complexion, dark hair and eyes as does my older brother. I have fair skin, dark hair and eyes. My child has a darker complexion than both of us and also has mongolian spots.Thank you for your assistance. View Answer |
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2008-04-20 |
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We have a boy (13) and a girl (9), both have having oculocutaneous albinism. Our daughter also has reading deficiencies. I feel like the vision problems are an obstacle (rather than related) to the reading problems. I know that the wiring from the eyes to the brain is different with albinism. Does this wiring difference have any relation to learning differently? I am looking for ideas to help her make the connections with reading and spelling and do not want to overlook something because of the wiring differences. What type of doctor would have knowledge in these areas? View Answer |
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2008-04-17 |
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My father has Dariers Disease. According to one physician more than 30 years ago - it is a mild form. However, his skin seems to be "breaking down" more easily as he ages. His father and sister also had the same. My brother, now 41, has it also. His skin used to be in good condition compared to my father - again as he ages his skin is worsening. I never showed signs of the disease until after giving birth to my first child. I now have the bumps, papules, warts on the palms of my hands but very few. In addition to the bumps - I have increasing and sometimes severe joint pain. My PCP has diagnosed me with fibromyalgia - but I don't agree. Could the pain be related to what may be a very mild form of the disease? View Answer |
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2008-04-15 |
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This may be a silly question, but...
My paternal grandmother, my father, me, both my brothers and my niece all have a single small spot on our back that always itches. Recently we discovered that my two brothers and I also have another itch spot on a foot. One brother and I have itch spot in the middle right of our backs, then the other spot is on our left inside heel. My other brother is just the opposite. My niece has a spot in the middle of her back and the bottom middle of her left foot. Both my dad and grandma have/had a spot in the middle right of their back. My grandma does not have a spot on her foot and we can't ask my dad because he is deceased. Any idea what we should call this benign & unusual aberration? Is there any history of this type of familial ?itch?? It?s just so bizzare, that it has made us all curious.
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2008-03-25 |
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I have twin grandsons. One has a wider forehead, thin chin, and while he eats more than his brother, weighs much less. His arms and legs are thin, but from birth he had this scaly patch on his leg. The pedi said it was eczema and told us to use cortizone. It didn't get better instead it has worsened. The patches now cover both legs, and behind his knees the area looks as if it's a huge burn. The creases are red and inflammed. His skin looks more like that of an old man than an infant. We use the eucerin like Dr. suggested. Now the dry patchy skin and bumps are going to his arms. AFter reading an article, Progeria has come to mind. He's only 12 months old. Should we see a geneticist? View Answer |
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2008-03-19 |
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I have DSAP (Disseminated Superficial Actinic Porokertosis) which I understand is genetic. Is there anything that can be done, genetically, to diminish the odds of spreading this awful skin condition to children and gradchildren?
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2008-03-15 |
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I am a 48 yr. old female. About 9 years ago I was diagnosed with Hashimoto's Thyroiditis. At that same time I began having periodic skin inflammations that would ooze and weep mostly on my face. I have been on Accutane, numerous antibiotics, had steroid injections into the lesions, etc. etc. with limited success. Could there be a link to the autoimmune disease? Any ideas as to what this disorder might be. Dermatologists are quite frankly puzzled. This takes big chunks out of my life. Any insights would be greatly appreciated. View Answer |
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2008-03-08 |
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Hello--
I read online that albinism is inherited in an autosomal recessive pattern, but the description seemed to refer to parents who are both carriers.
If I do not have the gene for albinism, does that mean:
a) my child cannot have albinism, but
b) my child may be a carrier, so my grandchildren may have it, if they marry someone who also carries the gene?
OR--Is the chance of inheriting albinism stronger if one partner actually has it?
In other words, if I do not have the gene, does the likelihood of "1 child unaffected, 1 affected, and 2 who don't have it but are carriers" remain? Or is it just that any of them could be carriers?
Thanks for your help in understanding this matter! View Answer |
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2008-02-15 |
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Hi I have a question regarding epidermolysis bullosa. My husband suffers with a mild form of epidermolysis bullosa. He very occasionally gets blisters on his face which look like pimples that are painful. Apparently he suffered a lot more when he was a child. Also he has only one toe nail left on his feet which I think may be due to epidermolysis bullosa (they deform and fall off easily when injured) His mother's feet are the same so I'm told. I do not have epidermolysis bullosa that I know of but do suffer with small painful blisters on the ends of my fingers. These blisters have only developed in the past 3 years. I am now in early pregnancy and my question is - is it possible that our child may suffer from a moderate or severe form of epidermolysis bullosa because of our genetics? If I don't have epidermolysis bullosa willl our child only have the chance of inheriting the mild form of epidermolysis bullosa that my husband suffers with? Thanks for your advice. View Answer |
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2008-01-27 |
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I am doing a project on Oculocutaneous Albinism. I have a few questions:
1. What are the different types of OCA
2. What are the genes involved in each type of OCA
3. What are the causes, symptoms, and treatments of OCA
Thank you so much for taking your time for answering my questions View Answer |
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2008-01-06 |
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If a two year has the hypopigmentation of different shapes(oval, linear ) on his body, but has no other developmental issues at all(normal growth), could he develop health issues later in life or does that mean he propably does not have mosaic trisomy 13? Basically, if no health problems have occured yet, is he in the clear? View Answer |
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2008-01-04 |
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Hello, I am worried about my hair. I am 15 years old and on the very top of my head i have a white spot with little red spots in my hair on top close to my forehead. I don't know what it is. I am a girl and i have soft brown hair and it is always in a phony tail. Do you know what this is? Is the anything i can do? What is this on my hair? I am very worried and it looks like it is getting bigger but you can barley tell and sometimes my red spots get really read. Thanks!!!! Please reply ASAP! View Answer |
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2007-12-25 |
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My daughter Isabella(6)was born with Goltz syndrome,focal dermal hypoplasia.Is an inherited az an X-linked dominitant condition,which involves many body sistems abnormalities.Skin,papilomas,teeth,syndicatly fooot,missing fingers,kidneys...,she has all of that I mention above.They just found out new GENE for Goltz PORCN,referred by porcupine(protein).I am a single mother ,was born in brazil,which makes a little harder for me,although my brother is a Cardiologist(in Brazil)he did help me in some researches or visit other doctors while I was there.Now I see there is much more than 6 years ago.My question(I am sorry)is my fault ?She did inherited from me since is an X-linked 1.Since they found there is a defect in the PORCN,what it benefits?Only before conceiving,or future solution,like can you fix a defect in the gene after born? View Answer |
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2007-11-29 |
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I work as a nurse in a childrens hospice. Please could you tell me the life expectancy of a girl with Harlequin Icthiosis. Initially it was felt she may die in infancy, she is now 10 years old and has not suffered any life threatening episodes of infection. View Answer |
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2007-11-22 |
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I was told by an eye doctor that I have mild albinism my hair is blonde and my skin is very light . I am 53 and throughout my life I have had a lot of tumors.Once in the hospital and infectious disease physcian mentioned a genetic condition regarding tumors that affect albinos .Do you know anything about this condition or can you recommend a website?I would like to read more information about albinism ,but most of the info I have read is all about genetics and you would have to be a geneticist to understand.I am an average person who works as a Medical Billing Specialist.Thank you for taking the time to read my question View Answer |
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2007-10-28 |
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Dear Sir,I am 32 years and my wife is 33 years old . My elder son is 3? years old suffering from ASD and younger son 4 months old suffering from Epidermolysis Bullosa Simplex (as per immunohisto chemical staining of skin biopsy.)The results of report of skin biopsy is : - The staining pattern in the patient?s skin biopsy sections was noted to be normal with Collagen VII antibody but patchy with Laminin and was found to be absent(negative) with cytokeratin antibody.Comments of the report :- The staining pattern in the skin biopsy is suggestive of Epidermolysis Bullosa Simplex (E.B.S.)By the study of clinical features, I think my son is suffering from KOEBNER or DOWLING-MEARA type.Now I need your kind attention/suggestion for gene analysis.
For gene tests what I should do?
Is there any gene therapy for EBS ?
Is it correct, EBS will end itself after passing one or two years ?
How I can know the actual type of EBS of my son ?
Please give me the information, I will be very thanksfull to you. View Answer |
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2007-10-08 |
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Thank you for taking my question. I am a parent of a little boy that is 7 years old. We just found out that he had Oculocutaneous Albinism. When he was 3 we had a daughter who had brown hair and brown eyes. I believe he has type 2. We had no plans to have anymore children because we knew that there was a 25% chance our next child could have it. My son has 20/70 20/80 vision. He was born with white hair and blue eyes. His hair is now yellow and his skin is pretty white but the sun does change its color a little. I just found out that i was going to have another child. I want to know if my next child has the same thing can it be worse or would it be about the same? Could I have a child with no eye color? Would it make a difference if it was a boy or a girl? If you cant say for sure just some general information would be very nice. What are the chances it could be worse. View Answer |
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2007-09-28 |
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I have been diagnosed with a rare form of EB simplex. It involves blistering on the hand and feet. Worse in hot weather. Also with thickness (calluse like) on my feet. In addition to this a nail dystrophy. They become infected. By this I mean they swell twice its size and have pus inside the nail. We have to take a needle and poke a small hole in the nail to relieve the pressure. I do not see any thing like this on the sites for EB. Chapel Hill NC was doing research at one time when I was youger. Is there any information on this type anywhere? We were told we were the only family the knew that had blistering on hands and feet and nail dystrophy. I am looking for more info. on this. Thanks View Answer |
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2007-09-16 |
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I have unexplained, intense itching with no rash. It occurs frequently and has even awakened me at night. It occurs primarily on my lower arms, the back of my neck, and occasionally on both inner thighs. My maternal grandmother had this condition, as does my Mother. My grandmother passed away several years ago after lung cancer (non-smoker). The only thing that seems to stop this itch is ice applied to the areas that itch. We have taken diphenhydramine with no results. I have been to several doctors-allergist, dermatologist, psychiatrist, with no help and no clue what this is. I read something about Gastrin-releasing peptide receptor and was wondering if you have any suggestions as to how to diagnose my problem. Thank you for any assistance you have. View Answer |
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2007-09-04 |
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My 19 year old son was diagnosed with Linear Focal Elastosis (saw a dermatologist due to deep, wide striae across his entire back) at age 16. A skin biopsy only revealed a "problem with skin elasticity". He was also diagnosed then with bilateral Cutis Laxis which was repaired. His skin is very elastic and velvety. He has not had a problem with joint dislocation. He does report regular IBS symptoms and just recently was told he has a hernia by his family physician. He also questions why he has always had an increase urgency to urinate, this symptom noted since about age 4 (at the time he did see a urologist who could not find the cause). He has not ever been diagnosed with E.D. or never has any doctor suggested it as a possibility. Am I correct in thinking he should have a genetic evaluation to be sure? View Answer |
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2007-08-28 |
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I believe I have a condition called dysplastic nevi syndrome or atypical mole syndrome. I've had many large moles removed from my torso. While I know there are many worse genetic conditions out there, I've always been self concious about it and was wondering what the cause might be. My deceased father seemed to suffer from a similar condition but it doesn't seem to be present in the rest of his family although I am not entirely sure. My question is: Is there a specific gene or genetic cause for this condition and if so, what might be my chances of passing this on if I have children? Thank you. View Answer |
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2007-08-23 |
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My friend is the mother of a female child now aged 9, born with unilateral hearing loss ( totally deaf in her left ear) and had Aplasia Cutis Congentia. She has fine motor skills problems, is hyperextensive but no other significant presentations. Is there a syndrome or genetic link between the deafness and ACC? Thank you. View Answer |
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2007-07-13 |
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Hello, I was born with what I believe is a giant nevus on my back. According to my relatives, they do not know of anyone else in our family (at least 4 generations before mine) with this condition. What are the chances that my future child/children will have a nevus? Is it even hereditary? Thank you. View Answer |
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2007-06-18 |
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My son has Epidermolysis Bullosa simplex, it is not an extreme condition but he does blister on his knees, elbows, hands and shins, he competes as a fairly successful High School wrestler and it has a negative affect on his performance as you would imagine.. I have two questions 1.) He wants to get a tattoo... are there any complications related to this procedure, considering the frailness of his skin?? 2.) He also has problems with the toe nails on his feet... they are very irregular and at times painful... would treatment with oral Lamisil Pills be of any help, as with a fungus infections?? Thank you in advance for any information you can provide. View Answer |
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2007-06-12 |
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Hello, I have the skin condition Morphea and have had it for 25 years. My husband and i are thinking of starting a family, will this be passed on to my children? Can I get tested to know for sure? View Answer |
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2007-05-14 |
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Dear Geneticist,I just read about epedermolysis bullosa simplex. As I am a science information manager, I would be interested if this condition only affects human beings or also other animal groups like snakes, worms, loricifera and prions.
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2007-05-02 |
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my mother's brother has albinism type OCA1A(white hair, vision roblems..) but i am normal.my fiance has albinism type OCA1B(i think). his hair became darker than in his childhood but still very blond, blue eyes always red in photos, his skin never becomes darker even after sun exposure (it becomes very red).i would like to know, if we get married, what are the chances to have albinos babies and if they can be of type OCA1A or only OCA1B?
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2007-04-12 |
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Is vitiligo and oculocutaneous albinism or ocular albinism the same thing b'coz i hv seen that people with OCA or vitiligo hv white patches. can a mother (vitiligo patient) transmit the disorder to her child? View Answer |
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2007-04-11 |
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hi! im suffering from Psoriasis. is psoriasis a genetically tranMITEd disease? i mean can my child hv this disorder.no one in my family had it in the past. is there any cure . View Answer |
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2007-04-11 |
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I'm an individual suffering from vitiligo. i want to know that is this disease heritable? Is this disease have any connection with Gene mutations? If yes, than how can it be cured? I'm the first person in my family who is suffering from this disorder . No one in my family had this, not even my fourfathers. I hv studied this somewhere that if a disorder is confind to somaticcells it do not get inherited to next generation. How can I learn that the disorder I'm suffering from is confind to somatic and not to germ cells?Is there any permanent cure for this disorder? I have this for last 10 years. Ihave tried almost everything from Homeopathy to Ayurvedic to Allopathy but there is no relief to me as of now. View Answer |
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2007-04-04 |
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I have a 5 week old grandson who is developing what appears to be x-linked ichthyosis. The childs' mother ( my daughter) had a low estriol on a prenatal quad screen. What are the genetics if this child wishes to have children? Also what are the most practical tests on the mother and child to determine the exact genetic defect. View Answer |
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2007-03-10 |
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Dear Sir/Madam,I was born with a hypohydrotic ectodermal dysplasia. I am 30 and I would like to know if there any information about for how long can you live with this condition. If I can live as long as an average people or is there a certain age we can live till.
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2007-03-01 |
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I have 2 children; both boys (ages 9 years and 1.5 years), both with Albinism (OCA). My children are the only family members with OCA. I have not been able to find information about the possibility of my sons passing on OCA to their children. My understanding has been that albinism is a recessive genetic disorder; thus my children could not pass on this trait. Is this correct? View Answer |
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2007-02-13 |
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Ok I have Ectodermal Displaysia, And I just got a DUI ABout a month ago. Now I know my sweat glands and things are messed up. I am hoping this will help me with my case if I have a doctor or Professional person to say that indeed my condition would effect somehting like that, or that it is possible. Cause I did not drink much at all I had like 3 but was a DUI I don't get it....Please help me so I have something to work with so i don't get screwed again in my life. Its bad enough I have this condition and dealt with this my whole life. View Answer |
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2007-01-15 |
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My husband who is african american suffers (since birth) w/chronic eczema (skin discoloration in his forearms and back knee creases as a result from scratching as a child, back and face flare-ups, scalp....) He refuse to take steriods so he went to a homiopathic doctor and had extensive tests run and has found much relief w/light treatments and diet. Although he can "control" his eczema based on the results, I need to know what are the odds this condition can pass on to our children? There seems to be a gene of some sort involved, please see brief family history: My family :non issue; Husband's family: Father side - father suffered with eczema throughout childhood, out-grew as adult; Mother side - all 3 of her children (2 girls, 1 boy) have eczema (but not as severe as my husband), and 7 out of 11 of her siblings ranging from mild to severe. She on the otherhand suffered w/acne as a child. View Answer |
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2007-01-14 |
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I have a cousin who is diagnosed with ectodermal dysplasia. I am trying to find out if there are any facilities that can perform molecular DNA testing to confirm her disorder. I would really appreciate your guidance in this matter. View Answer |
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2006-12-15 |
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I have a condition which for 8 years i have had tests, operations and no specialist is able to detemine the type of skin disorder that I have. It is only on one hand and has not spead at all in 8 years. The symptoms are long hard type blisters all over my hands. Doctors have advised it is genetic and I was wondering if there is any information available on diseases with similar symptoms? View Answer |
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2006-12-12 |
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Is there a skin pigmentation syndrome that causes a pigmentation pattern in humans similar to raccoon or panda? I saw this in an old genetics book and once live. What is the name of it, does it carry any health risks? when was it first described? View Answer |
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2006-12-01 |
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What is the life expectancy of an individual diagnosed with incontinentia pigmenti experiencing seizures, paralysis, mental retardation, delayed speech? View Answer |
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2006-11-15 |
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Is Familial Cold Urticaria a genetic disease and if so, what are the effects of this disease? View Answer |
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2006-11-06 |
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My granddaughter hs a diagnosis of "classic IP". After having all tests that can be done, no FH, no mosacism, no NEMO mutation, normal eosinophil counts since birth, normal skin biopsy, normal X-inactivation, she still carries this diagnosis. She did not have all the stages. She got her pigment after a reaction to phenobarb. She had some bruisies prior to that bit no blisters or warty areas. All except her palms and soles were pigmented. Some looked like freckles on her belly. Some was in a line on her legs and arms. Her bac was almost completely covered. About 50 percent disappeared by age 3. What is the current update on what is caused by IP as I see it has changed and the more serious seem to be taking a backseat. My granddaughter is fatal and I want to get a correct diagnosis for her but cannot seem to get anyone to listen. They just keep putting this diagnosis copied from the last report, yet no one will help to find a true diagnosis. Is IP a fatal disease? How many patient's die of IP related causes How true are the statistics if they include children like my granddaughter who has all tests negative? I see articles on IP being missed because it was thought it was something else, how about being told you have IP when you do not? What can we do? Where do we find a doctor who will help us find the correct diagnosis, even if it is not genetic?? We live in NY state near Syracuse. Most of her tests were done at Baylor and they have told me to try and find competent doctors but I do not know where to find someone who does not just keep putting the same old thing with all negative tests. Thanks. Grandma who wants a doctor to find an answer. View Answer |
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2006-10-30 |
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how do you test for ectodermal dysplasia? Is it a blood test? Where is it sent? How much does it cost? Does insurance cover this test? View Answer |
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2006-10-30 |
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I am a woman with Ocular Albinism. I recently was told that my 3 year old daughtor also has it. I am very confused about what we actualy have. My mother has always told me that only boys can get it, and I was a very rare case. She also said it would skip a generation. Obviously this is not the case. My daughtor has it and her twin sister does not. Maybe we have some other condition? I have very light skin, yellow hair, blue eyes, 20/200 vision with correction, and almost all white or yellow body hair. My daughtor has very light skin, blue eyes, slightly darker yellow hair and body hair. Her twin sister has brown eyes (that cross) tan skin, and medium brown hair. Their father is dark with brown hair and eyes. There is no history of this condition in either of our families. I just want to know what is going on with my child. Will my other children have this? Will my grandchildren have this? Can they be born totaly blind? Did I pass this to her myself? Will she have other health problems related to it? Please help us find some answers if you can. View Answer |
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2006-10-19 |
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My wife has Incontinentia pigmenti and both of my daughters have the disorder also. From what I read, there is a 50/50 chance of my wife passing this on to each child. If we decided to have a third child and this one was a boy, would there still be the same 50/50 chance? I realize that in this case if she did pass it on it is nearly fatal and that the child would not survive the pregnancy. View Answer |
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2006-10-17 |
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I am trying to find a doctor to either confirm or get rid of an IP diagnosis. I have talked with the doctors at Baylor and had all of the testing for IP done on this child and they are all negative. No FH, no mosacism, no NEMO mutation, negative skin biopsy, and normal X-inactivation. Will all the tests I have been told to find competent doctors because IP is not a reasonable consideration but cannot find a doctor to do this. We live in Syacuse NY. The child has a fatal illness as well and we are tired of things getting missed because of the IP diagnosis. If she does not have this we just want someone to say it so we can get on and get her treated for things she needs to be treated for. How does one find such a doctor when 4 years of medical records says IP even though all her tests are negative. Your help in finding a doctor who wants to really diagnose her and not just keep putting this diagnosis down would be appreciated. View Answer |
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2006-10-12 |
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I have been reading the latest I can find on IP and it seems that some of the more serious problems associated with it may not be. When you read the statistics, how many actually have tested positive and how many are just diagnosed clinically? 1. What connection might there be with IP and pulmonary hypertension? 2. Would your back be a complete solid brown pigment, 50 to 75 percent? 3. What is the most serious brain bleed complications from IP? Can the ischemic event involve all three vascular distributions including the pituitary, yet this 4 year old has no mental retardation. 4. Is there another pigmented genetic condition? Her geneticist does not think there is another if she does not have IP, which all tests are negative for. 5. Maybe I should not be seeing a geneticist and should be seeing someone about a phenobarb reaction she had at 8 weeks old while on cortef. She did not have any of the 4 stages except a reaction to a medication that we went to the ER and was then diagnosed as eryhtma multiforme. After that went away in a day or so she got the beautiful pigment head to toe except her palms and soles. No blisters, no warty lesions. Thanks. View Answer |
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2006-10-12 |
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Hello, for a long time I have had this odd skin disorder. When i was younger I went to numerous skin specialists and doctors about it. (or so my mother tells me) and no one could tell me what was wrong with me. As I got older the problem never lessened or went away.
I was at my daughters pediatrician today and my disorder came up cause i thought my daughter might have it. She told me that I had something... I cant remember the name but I think she said it was hypohidrotic ectodermal dysplasia. I looked it up online and the symptoms sound alot like what i experience... and even said some things that do happen to me that I had neever thought were related to my skin. I thought I just had ugly skin.
My skin is over the most past of me very pale ( i can't tan... at all) there are little red/pinkish bumps (smaller than brail dots) all over my arms, partially on my legs and on the sides of my face... a few on my chest. I get fevers occasionally without being sick. I'm really intolerable to heat. I thought i was just wierd but I seriously cant stand being hot. Like in the summer I take 3-4 sometimes 5 cool baths/showers a day just to cool off. But no one in my family seems to display these symptoms also. I was told that my grandmother kind of did... not like me though. View Answer |
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2006-10-10 |
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Today someone approached me in the health food store and asked me if I have problems with inflammation, as my face is obviously red and scaley with what the doctors have always called eczema. The woman in the store suggested it may be Familial Mediterranean Fever. Is eczema a sign of FMF? Extreme eczema bouts have change my life when they happen, esp. on my face. I am 36, I am female and want to have children, but possibly the toxicity, acidic PH, low temperature I have bouts of bringing on eczema may not allow me to have children, but if I do will they be healthy? What are their chances of mutated genes due to my condition? What are my/their risks? Would a dna test give me any answers? What should I look for? How can I heal me now? View Answer |
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2006-10-06 |
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I have been diagonosed with hemangiomas--they are located in my mouth,and tongue and are internal only. None in the brain or on my spine. They appeared when I was in my 20's. I've been told that I can pass this on in much more deformative ways to a child. This has stopped me from getting pregnant. No one else in my family has this, so what are the chances of passing this on, and can embryos be tested for this? View Answer |
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2006-09-03 |
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Im an Educational Assistant for special needs and I just recently saw a show about harlequin ichthyosis and I just had a quick question about harlequin ichthyosis. Is it more common for a female to be born with harlequin ichthyosis then it is for males? I just found it weird that on this show they showed 4 different people with harlequin ichthyosis and they were all females. View Answer |
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2006-06-23 |
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Hello, I am student at the University of Arizona as a nursing major, however, my true passion is that of genetics. Though this may sound a bit funny, I saw a television show that involved a pair of families whose children suffer from the extremely rare disease of harlequin ichthyosis. I am beginning to have a grasp on the severity and complexity of the actual disease, however, I am still at a loss at to why--genetically--and when--conceptually--this happens. In addition, what is it about this condition that continues the perpetual addition and shedding of skin? Thank you so much for your time. It is truly appreciated. View Answer |
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2006-05-23 |
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upto what degree the eye sight of an albinism child can be corrected?
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2006-04-11 |
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I recently discovered the hideous disorder known as harlequin ichthyosis. I am just confused as to how a severe skin disorder causes the.. ghastly bulbous red orbs that the infants develop. View Answer |
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2006-02-17 |
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I have oculocutaneous albinism. What tests can be done to determine which type I have? Where can the tests be done? View Answer |
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2006-02-06 |
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how long will you be able to live if you have albinism? View Answer |
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2006-02-03 |
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What are the latest developments of albinism? View Answer |
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2006-01-31 |
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My daughter has white hair whereas both the parents dont have white hair in their families and if our daughter is an albino child then what category is she since her eyes are light brown and her skin seems quiet normal.
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2005-11-06 |
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I want to know what is the chance that doctors will find a cure for albinism? View Answer |
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2005-09-14 |
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I'm married to a girl whose father has albinism. There is no albinism in my family history. What is the chance for us to have a child with albinism? View Answer |
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2005-09-14 |
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My 5 month old son was recently diagnosed with albinism. Although he is quite pale, he does not appear to be absent of color and his hair is golden rather than white. My husband's mother's father had albinism. We would like to have a second child. I am wondering if it would be possible to have a second child with OCA1 if my first child has OCA2? View Answer |
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2005-09-14 |
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My boyfriend and I are planning to start a family someday and he is diagnosed with oculocutaneous albinism. His father is African American and his mother was African American and Puerto Rican; he has 2 sisters and 1 brother. I am Caucasian and have no history of another race in my family as far back as 7 generations. My question is if we have children what are the odds of us having an albino child? View Answer |
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2005-09-14 |
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My daughter was diagnosed by a nero opthamolgist at 8 weeks with Ocular Albinism. There is no known history of OA or OCA in our families. She has fair skin and hair, but not white. From what I've read, I believe it would be very rare for her to have OA, but more likely for her to have OCA. Is that correct? Additionally, I've believe that I've read that a mother who carries OA genes should be able to be diagnosed by dialing her eyes where a mosaic pattern can be seen. Is this true and would the same be true for OCA? Would the same mosaic patter be present? My daughter, 8 months, has nystagmus and shows effect of OA. Also she is hypertonic in her upper body, but shows no other symptoms to lead to any other diagnosis. I hesitate to have her tested for genetic disorders (did have her tested for hermanke pudlak - was negative) as each one requires a separate blood test from what I understand. View Answer |
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2005-09-14 |
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My husband and I are planning to have a child. I have a question about the chances of our having a baby with type 1 albinism. This is the background information: My husband is from Pakistan. I am Caucasian. Two of my husband's sisters married two brothers. Both couples are first cousins. They have the same grandfather. Some of the children born to these couples have type 1 albinism even though their parents have normal pigment. My husband has several siblings and a large extended family, but none of them have had children with albinism except the two sisters who married their first cousins. None of his other siblings married relatives. No one on my side of the family has been born with albinism. I understand that in order for a child to have type 1 albinism, both parents must carry the gene. What are the chances of my husband and I both being carriers and did my husband's sisters increase their risk of having children with a carrier by marrying a relative? I don't want to have amniocentesis unless the chances of our having a child with this condition is highly possible. View Answer |
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2005-09-14 |
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My husband and his younger brother have albinism. There are five brothers and sisters. Two are albinos and the rest are normal. There is no albinism in my family history. What is the chance for us to have a child with albinism? Is there any treatment for this? View Answer |
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2005-09-14 |
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My newborn daughter was recently diagnosed with albinism. She had dark yellow-blonde hair at birth, but at two months, it has turned a pale blonde color. Her skin has golden undertones, and her eyes are blue and diffusely transilluminate. My husband has two siblings who were born with very light hair and eyelashes, but now as adults have brown hair and hazel eyes, and no vision probolems. My questions are: why is my daughter's hair turning light blonde; what variant of OCA is she, judging from her pigmentation; does more pigment in hair and skin correlate to better vision; since we are from Pakistan, is it significant that my husband's siblings were born light-haired, and turned darker over the years? My husband and I are first cousins, and besides myself, there are several other family members who had light hair as kids that became darker over the years. Also, is there a hope for the cure of vision problems associated with albinism, for example, stem cell/gene therapy in the near or distant future? View Answer |
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2005-09-14 |
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My spouse and I are both Afican American. We have two children, both girls. The first is an albino and the second is visually impaired. We would like to have a third child but we need advice. We need to know why this happened, if it will happen again and what we can do to prevent it. View Answer |
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2005-09-14 |
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What is the history of albinism, how did it start off? View Answer |
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2005-09-14 |
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What options would you suggest to a couple whose child will be albino? Would abortion be necessary or should even be considered? View Answer |
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2005-09-14 |
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My sister is split down the middle. On one side she has blonde hair, a blue eye and freckles. On the other she has a hazel eye, brown hair, and tanned skin. The tanned part of her skin is a birthmark that runs the length of her arm and wraps around to her back. She is very smart and has never had any difficulties developing. She is now 11 y/o. What could have cause these vast differences to be split down the middle? View Answer |
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2005-09-06 |
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