ALKAPTONURIA AND OCHRONOSIS - CASE-REPORT AND REVIEW

被引：44

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

来源：

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY | 1992年 / 27卷 / 04期

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 [皮肤病与性病学];

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

页码：609 / 614

页数：6

共 34 条

[1]

13 CASES OF ALKAPTONURIA FROM ONE FAMILY TREE WITH SPECIAL REFERENCE TO OSTEO-ARTHROSIS ALKAPTONURICA [J].