Alkaptonuria and ochronosis: case report and review.
J Am Acad Dermatol
; 27(4): 609-14, 1992 Oct.
Article
em En
| MEDLINE
| ID: mdl-1401313
ABSTRACT
Alkaptonuria is a rare genetic disorder in which the enzyme homogentisic acid oxidase is deficient, resulting in the accumulation of homogentisic acid in various bodily tissues. This is a multisystem disorder with a characteristic blue-black discoloration of the skin and cartilage, which is termed ochronosis. Herein we report a profound case of ochronosis secondary to alkaptonuria. Furthermore, we review the clinical manifestations of alkaptonuria and discuss the spectrum of ochronosis, both endogenous and exogenous.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias
/
Alcaptonúria
/
Ocronose
Tipo de estudo:
Etiology_studies
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1992
Tipo de documento:
Article