眼皮肤白化病

Oculocutaneous albinism.

作者信息

Okulicz J F, Shah R S, Schwartz R A, Janniger C K

机构信息

Department of Dermatology and Paediatrics, New Jersey Medical School, Newark, New Jersey 07103-2714, USA.

出版信息

J Eur Acad Dermatol Venereol. 2003 May;17(3):251-6. doi: 10.1046/j.1468-3083.2003.00767.x.

DOI:10.1046/j.1468-3083.2003.00767.x

PMID:12702061

Abstract

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.

摘要

眼皮肤白化病是一组遗传性皮肤病，其特征是自出生起皮肤、眼睛和毛发色素沉着普遍减少。1型和2型眼皮肤白化病最为常见，但也有其他几种类型被描述。黑色素合成途径的缺陷导致黑色素形成减少，这是眼皮肤白化病的病因。本文讨论了其病因、临床表现、诊断和治疗。