Doctor insights on:
Harlequin Baby Syndrome
Very rare...: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. Harlequin ichthyosis is very rare; its exact incidence is unknown. Mutations in the abca12 gene cause this disease. The abca12 gene provides instructions for making a protein that is essential for normal skin development. ...Read more
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
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
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
Genetic mutation: This is the most severe form of icthyosis, and is caused by a mutation in abca12 gene. ...Read more
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
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
Yes: It's usually quite survivable if the associated problem (often kidney trouble) can be managed. If it was merely caused by an amniotic fluid leak, survival is the norm; there may be a clubfoot. ...Read more
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