Oculocutaneous albinism

被引：42

作者：

Okulicz, JF ^{[1
]}

Shah, RS ^{[1
]}

Schwartz, RA ^{[1
]}

Janniger, CK ^{[1
]}

机构：

[1] Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Dermatol & Paediat, Newark, NJ 07103 USA

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2003年 / 17卷 / 03期

关键词：

oculocutaneous albinism; genetic disease; pigment disorder;

D O I：

10.1046/j.1468-3083.2003.00767.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：251 / 256

页数：6

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