ALKAPTONURIA AND OCHRONOSIS - CASE-REPORT AND REVIEW

被引:43
|
作者
ALBERS, SE
BROZENA, SJ
GLASS, LF
FENSKE, NA
机构
[1] UNIV S FLORIDA,COLL MED,DEPT INTERNAL MED,DIV DERMATOL,BOX 19,12901 BRUCE B DOWNS BLVD,TAMPA,FL 33612
[2] UNIV S FLORIDA,COLL MED,DEPT INTERNAL MED,DIV CUTANEOUS SURG,TAMPA,FL 33612
关键词
D O I
10.1016/0190-9622(92)70230-D
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
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.
引用
收藏
页码:609 / 614
页数:6
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