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单词 Erythrokeratoderma variabilis
释义

Erythrokeratoderma variabilis

英语百科

Erythrokeratodermia variabilis

(重定向自Erythrokeratoderma variabilis)

Erythrokeratodermia variabilis (also known as "Erythrokeratodermia figurata variabilis," "Keratosis extremitatum progrediens," "Keratosis palmoplantaris transgrediens et progrediens," "Mendes da Costa syndrome," "Mendes da Costa type erythrokeratodermia," and "Progressive symmetric erythrokeratoderma") is a rare autosomal dominant disorder that usually presents at birth or during the first year of life. To date, it is thought to be caused by mutations in genes encoding for connexin channels proteins in the epidermis, leading to the misregulation of homeostasis in keratinocytes.

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