[Endogenous ochronosis: a case description].
Endogenous ochronosis or alkaptonuria is an autosomal recessive disease caused by a deficiency of the enzyme homogentisic acid oxidase. Affected individuals excrete high levels of homogentisic acid in the urine, which darkens when it is alkalinized or oxidized. Deposits of blackish-brown pigment also occur in connective tissue; this causes, usually starting around the age of 40, the typical external manifestations of this disease, along with disorders in other organs. We present a clinical case of endogenous ochronosis, a very infrequent disease in our milieu. We will discuss the most noteworthy features of the case.
Díaz-Ramón
José L
JL
Servicio de Dermatología, Hospital Santiago Apóstol, Vitoria-Gasteiz, Spain. jld@aedv.es
Aseguinolaza
Begoña
B
González-Hermosa
María Rosario
MR
González-Pérez
Ricardo
R
Catón
Blanca
B
Soloeta
Ricardo
R
D006801:Humans; D008297:Male; D008875:Middle Aged; D009794:Ochronosis / Q000175:diagnosis*