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Harlequin ichthyosis is a rare and painful skin condition caused by an error in the ABCA12 gene. It is characterized by the overproduction of keratin, resulting in hardened and scaly skin. Patients are susceptible to bacterial infections, dehydration, and hyperthermia. Survival depends on coping with skin growth and protecting the body.
Harlequin ichthyosis is a painful inherited skin condition characterized by an overproduction of keratin and subsequent hardening of the skin. Cases have been documented since the 1700s, although until the late 1900s, people with harlequin ichthyosis rarely survived beyond the first week of life because the condition is associated with a variety of complications. This skin disease is very rare and most likely occurs in children of people who share a genetic lineage. Worldwide, an estimated 100 people are living with harlequin ichthyosis at any given time.
This disease is part of a larger family of skin conditions known as ichthyosis. These diseases are all characterized by the development of thickened and scaly skin. Harlequin ichthyosis is the most serious of these conditions and gets its name from the characteristic diamond shapes of hardened skin, reminiscent of the decorations used in harlequin costumes. Individuals with this condition grow overnight as much as other people do in 14 days, developing layers of hardened scales and constricted features caused by the skin tightening and hardening.
One of the more immediate complications of the disorder is the increased susceptibility to bacterial infections. People with this condition have skin that cracks rather than folds, providing numerous sites for bacteria to enter the body. Dehydration is another common problem, as is hyperthermia, because thickened skin doesn’t allow the body to regulate its temperature very well. People with harlequin ichthyosis are also very susceptible to sudden changes in temperature, thanks to their lack of thermal regulation. Many of them also have difficulty breathing because their hardened skin restricts the movement of the rib cage.
This congenital condition is caused by an error in the ABCA12 gene, genetic testing of patients has revealed. Tests also uncovered the fact that the parents of people with the condition share enough genetic material to suggest they have common ancestors, and that several patients also appear to share a genetic lineage, suggesting that the condition could be the result of a single genetic mutation. Parents who have a child with the disorder are very likely to see the condition in future children.
Survival with harlequin ichthyosis depends on coping with skin growth and protecting your body. Patients usually spend several hours a day soaking in baths to soften the skin, followed by vigorous scrubbing to remove the outer layers of skin. Heavy use of skin creams and moisturizers is also important to keep the skin hydrated. One patient with this condition, Ryan Gonzalez, is a successful triathlete, proving that it is possible to live and stay active with the condition.
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