Alkaptonuria - Case report

Anais Brasileiros de Dermatologia

Fernanda Helena Craide¹  Juliana Salvini Barbosa Martins Da Fonseca¹  Priscila Coelho Mariano¹  Natalia Monteiro Fernandez¹  Carlos Gustavo Carneiro De Castro¹  Yuri De Souza Lima Mene¹ 

关键词: Alkaptonuria;    Homogentisic acid;    Ochronosis;   

DOI  :  10.1590/abd1806-4841.20143052

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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