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Harlequin Ichthyosis Jesus Diaz & Andrea López Introduction • • • • Most severe form of Congenital Ichthyosis. Affects mainly skin. Condition manifests while child is still in the uterus. Characterized by a profound thickening of the keratin layer in fetal skin. Symptoms • Thick armor-like “plaques” that cover the body • Diamond-shaped plaques give the infant the appearance of a harlequin clown. • Born pre-mature • Abnormalities in: - Kidneys - Lungs - Appendages - Mouth - Eyes - Ears Causes • Mutations in the ABCA12 gene. • Parents do not exhibit signs or symptoms of the condition. Treatments • Bathe frequently, sponge baths. • Various skin lotions and moisturizers should be applied. • Creams and ointments containing the drug Etretinate. • Medication for pain management. Statistics • Listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). • Affects less than 200,000 people in the US. • Only 400 reported cases in the last 50 years. Demographics • Incidence figure: One in every 200,000 people. • No distinct pattern as to the racial, or genderrelated preference. • Although there is a chance of survival, the odds still aren’t good. Nusrit "Nelly" Shaheen • Oldest person with Harlequin Ichthyosis
