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Erythrokeratodermia variabilis (also known as "Erythrokeratodermia figurata variabilis," "Keratosis extremitatum progrediens," "Keratosis palmoplantaris transgrediens et progrediens,"〔Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.〕 "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.〔Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). Page 497. McGraw-Hill. ISBN 0-07-138076-0.〕 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. 〔Richard, Gabriela. (2000). ''Exp Dermatol''. Page 77-96. ISSN 0906-6705.〕 One type is characterized by generalized, persistent, brown hyperkeratosis with accentuated skin markings, while a second type is localized, with involvement that is limited in extent and characterized by sharply demarcated, hyperkeratotic plaques.〔〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.〕 It can be associated with GJB3 and GJB4. It was characterized in 1925.〔 Mendes da Costa, S. Erythro- et keratodermia variabilis in a mother and a daughter. Acta Derm. Venerol. 6: 255-261, 1925.〕 ==See also== * List of cutaneous conditions 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Erythrokeratodermia variabilis」の詳細全文を読む スポンサード リンク
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