Autosomal dominant epidermolytic ichthyosis

Autosomal dominant epidermolytic ichthyosis (EI), formerly known as bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare genetic skin disorder caused by mutations in the KRT1 or KRT10 genes, which encode keratin 1 and keratin 10, respectively. These keratins are essential structural proteins in the upper layers of the epidermis, and their dysfunction leads to fragility and abnormal thickening of the skin. The condition primarily affects the integumentary system (skin) and is present from birth. At birth, affected neonates typically present with widespread blistering, skin fragility, and erythroderma (generalized redness of the skin). As the child grows, the blistering tendency gradually diminishes and is progressively replaced by widespread, thick, dark, often ridged or corrugated hyperkeratosis (thickening of the skin). The hyperkeratosis is particularly prominent over joints and flexural areas, though the distribution can vary depending on the specific gene involved — KRT1 mutations tend to cause more prominent involvement of palms and soles (palmoplantar keratoderma), while KRT10 mutations may spare these areas. A distinctive and distressing feature is a strong body odor caused by bacterial colonization of the thickened, macerated skin. Secondary skin infections are common and can be a significant source of morbidity. There is currently no cure for epidermolytic ichthyosis. Treatment is symptomatic and supportive, focusing on skin care to manage hyperkeratosis and prevent infections. Regular use of emollients and keratolytic agents (such as those containing urea, lactic acid, or salicylic acid) can help soften and reduce the thickened skin. Topical and systemic retinoids have been used with variable success, though they may paradoxically increase skin fragility and blistering in some patients. Antiseptic baths and topical or systemic antibiotics are used to manage recurrent infections. Genetic counseling is recommended for affected individuals and their families given the autosomal dominant inheritance pattern, noting that approximately 50% of cases arise from de novo (new) mutations.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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