Alkaptonuria - Case report
An. bras. dermatol
; 89(5): 799-801, Sep-Oct/2014. tab, graf
Artigo
em Inglês
| LILACS
| ID: lil-720794
Biblioteca responsável:
BR1.1
ABSTRACT
Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Alcaptonúria
/
Ocronose
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
An. bras. dermatol
Assunto da revista:
Dermatologia
Ano de publicação:
2014
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Policlínica Geral do Rio de Janeiro/BR