| Literature DB >> 12702061 |
J F Okulicz1, R S Shah, R A Schwartz, C K Janniger.
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.Entities:
Mesh:
Year: 2003 PMID: 12702061 DOI: 10.1046/j.1468-3083.2003.00767.x
Source DB: PubMed Journal: J Eur Acad Dermatol Venereol ISSN: 0926-9959 Impact factor: 6.166