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ichthyosiform erythroderma


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Disorders of the skin in which there is abnormal proliferation and hyperkeratinization, often accompanied by fragility and a tendency for blistering and infection. Bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) is caused by point mutations in keratin genes (KRT1 and KRT10). Nonbullous autosomal recessive ichthyoses are divided into two major clinical entities, nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis, although there seems to be some overlap in the clinical manifestations. Nonbullous congenital ichthyosiform erythroderma (NCIE) can be caused by mutation in the transglutaminase-1 gene (which also causes lamellar ichthyosis type 1), the 12R-lipoxygenase gene, and the lipoxygenase-3 gene. A rare form of NCIE, Chanarin–Dorfman syndrome, is caused by mutation in the ABHD5 gene that encodes a 349-aa protein that has strong homology with a large protein family characterized by an α/β hydrolase fold.

Subjects: Medicine and Health.


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