Proper Name: Harlequin Ichthyosis
Common Name: Harlequin Baby Syndrome; HI
Age of Onset: HI is an inherited disorder which affects the person from birth.
Duration: To this date there is no known cure for HI. However, some individuals have survived into their 20s with the disease.
Most Common in: Both sexes and all ethnicities are equally likely to inherit this disease.
Cause: This rare disease only occurs when both parents have a defective ABCA12 gene. The gene controls the transport of lipids to the epidermis. The defective gene does not produce - or produces a smaller version of - the ABCA12 protein that carries the lipids. This disrupts the development of the epidermis, resulting in large scales that cover the body. Also, the eyes, ears, lips and nose may be abnormally contracted and movement in the arms and legs may be restricted.
Symptoms:
Premature birth
Extreme skin deformity (hard, scaly, cracked, red skin)
Contracted eyes, ears, lips, and nose
Unusual numbers of fingers and toes
Limited respiration as the chest wall is constricted
Difficulty swallowing
Dehydration (and edema)
Excessive hair growth and loss
Prognosis: Disease once was fatal to all infants. Now one can live with the disease into adolescence and adulthood. However, there is no none cure for HI. Victims usually die of dehydration, infection, or suffocation.
Treatment Options (Rx): There is no cure, but people have had success in keeping HI in check by bathing for multiple hours each day in an attempt to keep the skin moist. Others have had success by using Isotretinoin (Accutane), using massive amounts of lotion, and by taking a feeding tube of pure protein.
Links:
http://ghr.nlm.nih.gov/condition=harlequinichthyosis
http://www.wrongdiagnosis.com/h/harlequin_type_ichthyosis/symptoms.htm#symptom_list
