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skos:definition |
MSH: An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.,NCI: A rare autosomal dominant inherited form of ichthyosis. It is characterized by the presence of an erythematous skin with blisters at birth. The skin subsequently becomes dry, flaky and hyperkeratotic.
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