Question 1

what is harlequin ichthyosis?

Accepted Answer

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.

Question 2

what are the symptoms of harlequin ichthyosis?

Accepted Answer

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

Question 3

how do they treat people with harlequin ichthyosis?

Accepted Answer

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.

Question 4

an easy explanation as to what causes harlequin ichthyosis?

Accepted Answer

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

Question 5

what is the definition or description of: harlequin ichthyosis?

Accepted Answer

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.

Question 6

prognosis for a baby born with ichthyosis?

Accepted Answer

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.

Question 7

how can i know if i have harlequin type ichthyosis?

Accepted Answer

See your doctor: He/she will be able to make that diagnosis.

Question 8

can you tell me how common is harlequin type ichthyosis?

Accepted Answer

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

Question 9

what kinds of ichthyosis can a child have?

Accepted Answer

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.

Question 10

what is x-linked ichthyosis?

Accepted Answer

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.

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Harlequin ichthyosis baby

A member asked:

What is harlequin ichthyosis?

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What are the symptoms of harlequin ichthyosis?

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How do they treat people with harlequin ichthyosis?

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An easy explanation as to what causes harlequin ichthyosis?

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What is the definition or description of: harlequin ichthyosis?

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Prognosis for a baby born with ichthyosis?

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How can i know if i have harlequin type ichthyosis?

A member asked:

Can you tell me how common is harlequin type ichthyosis?

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What kinds of ichthyosis can a child have?

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What is x-linked ichthyosis?

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