Transcript Harlequin Ichthyosis

Harlequin Ichthyosis
Jesus Diaz
&
Andrea López
Introduction
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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