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Doctor insights on: Harlequin Ichthyosis Disease

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Why are people with harlequin type ichthyosis disease born with red eyes?

Why are people with harlequin type ichthyosis disease born with red eyes?

The eyelids...: The eyelids of these children often are rolled out and pulled away for the eyes. This exposes the inside surface of the eyelids which is very vascular and causes the eyes to be exposed and become irritated. In addition, the eyes can often bleed. It is a very difficult situation. ...Read more

Dr. Daniel Saurborn
3 doctors shared insights

Harlequin Ichthyosis (Definition)

The most severe form of congenital ichthyosis, causing severe thickening of the stratum corneum (topmost layer), which then fractures into inflexible diamond-shaped plates of skin. Associated deformities involving the eyelids, ears, nose, mouth, and genitalia may be seen. Recent advances in treatment have led to survival to ...Read more


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What is harlequin ichthyosis?

What is harlequin ichthyosis?

Infant skin disorder: Harlequin ichthyosis is a genetic disorder which causes babies to be born with hard, thick skin (like plates). It limits mobility and can lead to respiratory failure. Most often newborns die for the condition. ...Read more

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What are the symptoms of harlequin ichthyosis?

What are the symptoms of harlequin ichthyosis?

The worst form: The features of the sufferers are severe cranial and facial deformities. The ears may be very poorly developed or absent, also the nose. The eyelids are severely everted , which leaves the eyes and the area around them very susceptible to infection. They often bleed upon birth. The lips, pulled by the dry skin, are fixed into a wide grimace .Arms, feet, and fingers are almost always deformed ...Read more

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Could you explain what is harlequin ichthyosis..?

A challenge!: http://ghr.nlm.nih.gov/condition/harlequin-ichthyosis the above link is to a pretty good site that can explain this far better than i can in just 400 characters. I hope this helps you understand this rare condition. ...Read more

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How do they treat people with harlequin ichthyosis?

How do they treat people with harlequin ichthyosis?

Harlequin ichytosis: This is a rare genetic disease which used to be a fatal disease. Today however, retinoids have been used with some degree of success. There is a national organization you can contact.Also you or your doctor can contact the national institute of health who may have a ongoing study on the disease. ...Read more

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An easy explanation as to what causes harlequin ichthyosis?

An easy explanation as to what causes harlequin ichthyosis?

Genetic mutation: This is the most severe form of icthyosis, and is caused by a mutation in abca12 gene. ...Read more

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What is the definition or description of: harlequin ichthyosis?

Severe, congenital: The most severe form of congenital ichthyosis, causing severe thickening of the stratum corneum (topmost layer), which then fractures into inflexible diamond-shaped plates of skin. Associated deformities involving the eyelids, ears, nose, mouth, and genitalia may be seen. Recent advances in treatment have led to survival to adulthood for some patients. ...Read more

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I have a skin disorder called itchyosis, what are the best treatments for severe dry skin like this. Any prescription stuff available?

I have a skin disorder called itchyosis, what are the best treatments for severe dry skin like this. Any prescription stuff available?

Many Options: Ichthyosis ranges from mild to severe, and there are treatments available for whatever type that you have. Two main approaches to treatment are 1. To keep the skin moisturized 2. To remove the scales. Common prescriptions which accomplish one or both approaches include retinoids, urea, alpha/beta hydroxy acids and others. Recommend to see dermatologist to determine best treatment strategy for you. ...Read more

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Can you tell me how common is harlequin type ichthyosis?

Very rare: I would bet that doctors have rarely if ever seen this. ...Read more

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What kinds of ichthyosis can a child have?

What kinds of ichthyosis can a child have?

ICHTHYOSIS TYPES: This means "fish skin." dry, thick, scaly, or flaky skin. The various kinds include ichthyosis vulgaris, the most common kind. Others are lamellar ichthyosis, x-linked ichthyosis, bullous ichthyosis, congenital ichthyosiform erythroderma, and others. Do see a dermatologist if you think you or a family member has it. ...Read more

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What is x-linked ichthyosis?

What is x-linked ichthyosis?

Steroid sulfatase : Deficiency.Manifests with dry, scaly skin and is due to deletions or mutations in the sts gene. Xli can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms. Corneal opacities, cryptorchidism and mental retardation have reported. ...Read more

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Prognosis for a baby born with ichthyosis?

Prognosis for a baby born with ichthyosis?

No cure for it: Ichthyosis is a heterogeneous family of at least 28 generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin. In many types there is cracked skin. Which is said to resemble the scales on a fish.There's no known cure for ichthyosis, so the goal of treatment is to manage the condition. Some time they have eye involments. ...Read more

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What are the most common symptoms of ichthyosis vulgaris?

What are the most common symptoms of ichthyosis vulgaris?

Usually none: Or simply "dry skin". It's quite common and usually a non-problem. I have a friend who's a bodybuilder and is affected; he enjoys being "Allegator Man." ...Read more

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What treatments are available for ichthyosis?

What treatments are available for ichthyosis?

See dermatology: Over the counter Aquaphor is a good daily choice. Prescription emollient creams are available too, but one should see a doctor for that evaluation. ...Read more

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Any treatment for ichthyosis vulgaris?

Any treatment for ichthyosis vulgaris?

Not really: An agent such as lanolin can make you more comfortable. There are lotions with alpha-hydroxy acids that may help. Especially, whether you're a man or a woman, you and those who are special to you may enjoy the distinctive look and feel to your skin. I have a bodybuilder friend who's affected and he enjoys being a "Gator Man". ...Read more

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How can one stop ichthyosis?

Further Research and: Gene therapy , no body know if some day some body figure a way out of this disease or other.. ...Read more

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What are the chances of getting ichthyosis?

What are the chances of getting ichthyosis?

One per million: Incidence figures are only best guesses, because all of these diseases are relatively rare. This number is the likelihood of seeing a particular form of ichthyosis in a given number of live births. If no number is given, the incidence is probably lower than one per million. ...Read more

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Can a person with ichthyosis donate blood?

Can a person with ichthyosis donate blood?

Possibly: Some blood banks consider icthyosis an autoimmune disease and will not accept your blood. Some banks will not accept your blood if you are on accutane, and varying other medications. I disagree with the autoimmune designation so i would suggest checking out your local blood banks policies as these can vary. Theoretically you should be able to donate blood if you meet certain criteria. ...Read more

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Dr. Christopher Scott
71 doctors shared insights

Ichthyosis (Definition)

A skin disorder that leads to dead skin cells accumulating in thick, dry scales on the skin's surface. This is hereditary and can range ...Read more