General Information About Harlequin Ichthyosis
Disease Details and Frequently Asked Questions
It is the most severe and fatal form of ichthyosis (fish scale) diseases. It is the condition where a baby is born without elastic skin, instead having armor-like skin composed of thick, hard keratin plates separated by deep red cracks.
It acquired this name because the hard, diamond-shaped thick skin plates covering the body resemble the patterns of a Harlequin (clown) costume from classical theater.
It is an autosomal recessive inherited disorder resulting from the inability to transfer fats (lipids) between skin cells due to a severe mutation in a gene called ABCA12.
Due to the rigid skin, the eyelids and lips turn completely outward (ectropion/eclabium). The nasal and ear cartilages are flattened. Because the skin does not stretch, the baby struggles to expand its chest while breathing.
The skin is the body's largest shield that regulates temperature balance and keeps microbes out. When this barrier is defective, the baby loses fluids (dehydration) and suffers severe infections (sepsis) as bacteria enter the bloodstream.
There is no definitive cure. In the intensive care unit, the baby's skin is continuously moisturized with emollients. Oral retinoid (Vitamin A derivative) medications that accelerate the shedding of skin cells, along with intravenous fluid and antibiotic support, are administered.
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