Epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma is a rare autosomal dominant disorder characterized by an early onset, with erythroderma and bullous lesions, leading to severe generalized hyperkeratosis in adulthood. Mutations have been found in keratin 1 and keratin 10 genes. The clinical manifestations of EHK present striking heterogeneity and at least six clinical phenotypes have been identified. We report on a case of EHK in a 12-year-old girl with erythroderma, erosions and blisters on the entire body surface at birth and generalized hyperkeratosis but without severe palm and sole involvement in the later stage. On the basis of clinical and histopathologic findings, the diagnosis of EHK type NPS-3 was made.
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