What Is Harlequin Disease?

Discovered in 1750, harlequin ichthyosis or harlequin disease is a skin disorder caused by a genetic abnormality. The condition is very rare, with less than 100 recorded cases since the disease's discovery, reports the University of California at Irvine.

Primary Feature

• From birth, infants who have harlequin disease display the typical first sign of a thick, scaly covering over the skin. Deep cracks form in the skin, creating a diamond-shaped pattern.

Other Symptoms

• The scales caused by harlequin disease may give a patient's eyes, nose, mouth or ears an abnormal shape. The cracks in the skin may also cause bleeding around the eyes or mouth.

Cause

• In order for a child to be born with harlequin disease, both parents must carry the gene, explains the U.S. National Library of Medicine.

Prognosis

• Children with harlequin disease rarely survive into adulthood, reports the University of California at Irvine. In some cases, the condition makes it difficult to breathe and leads to respiratory failure, while in others skin problems make patients susceptible to severe dehydration or fatal infections.

Survival

• Survival is rare but possible. Ryan Gonzalez has survived into young adulthood with harlequin disease and is a triathlete. Gonzalez uses a medication called isotretinoin, skin lotions and a feeding tube of protein while he sleeps as a part of his treatment regimen, explains the University of California at Irvine.