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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. Payam Rafat
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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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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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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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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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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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

Dr. Christopher Scott
68 doctors shared insights

Ichthyosis (Definition)

Ichthyosis is 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 from mild to severe. Typically ...Read more