Harlequin ichthyosis is a skin condition, the most severe form of congenital ichthyosis. It is associated with a mutation in the gene for the protein ABCA12. The condition is characterized by a thickening of the keratin layer in foetal human skin. The scaly keratin greatly limits the child's movement. Because of resultant cracked skin in locations where normal skin would fold. The condition puts one at serious risk of fatal infection.
Those born with this condition have a hard, thick skin that covers the most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities in the condition affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs. Owing to the restricted movement of the chest, the patients are likely to experience breathing difficulties and respiratory failure.
In the condition, the skin normally forms a protective barrier between the body and its surrounding environment. As a result, it is difficult for patients to control water loss, regulate their body temperature and fight infections. There can be an excessive loss of fluids (dehydration) and life-threatening infections may develop in the first few weeks of life.
The skin condition was always fatal, whether due to dehydration, infection (sepsis), restricted breathing due to the plating. There have been improvements in care, most notably retinoids can help the patients. Lifespan limitations have not yet been determined with the new treatments.
A study in the Archives of Dermatology described the condition as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the prognosis of harlequin ichthyosis is improving.
The condition is rare and affects infants in several different ways. With intensive medical support and improved treatment, people with this disorder have a better chance of living into adolescence.
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