Harlequin ichthyosis (HI), also known as 'ichthyosis fetalis', is an extremely rare autosomal recessive congenital ichthyosis (ARCI) affecting the ABCA12 gene. It is the most severe subtype of ichthyosis. Classified as an autosomal-recessive disease, mutations of the ABCA12 gene in HI causes thickening of the keratin layer in the skin (hyperkeratosis) in the stratum corneum. Moreover, HI is characterized by thickened, dry "armor-like" plaques that give an appearance of 'scales' that are separated by deep fissures covering the entire surface of the body. Infants affected by this disease are at higher risk of infection due to compromise of the skin's protective barrier.
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