Alkaptonuria - Case report

作者：Craide Fernanda Helena^*; Barbosa Martins da Fonseca Juliana Salvini; Mariano Priscila Coelho; Fernandez Natalia Monteiro; Carneiro de Castro Carlos Gustavo; Lima Mene Yuri de Souza

来源：Anais Brasileiros de Dermatologia, 2014, 89(5): 799-801.

DOI：10.1590/abd1806-4841.20143052

• Alkaptonuria
• Homogentisic acid
• Ochronosis

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.

• 出版日期2014-10