Alkaptonuria: A case report

被引：3
|
作者：
Odabas, AR
Karakuzu, A
Selcuk, Y
Erdem, T
Cetinkaya, R
机构：
[1] Ataturk Univ, Fac Med, Dept Nephrol, Erzurum, Turkey
[2] Ataturk Univ, Fac Med, Dept Dermatol, Erzurum, Turkey
来源：
JOURNAL OF DERMATOLOGY | 2001年 / 28卷 / 03期
关键词：
akaptonuria; homogenitisic acid; metabolic disorder; ochronosis;
D O I：
10.1111/j.1346-8138.2001.tb00111.x
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, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the, tendons. We report a 33-year-old woman who presented with alkaptonuria and ochronotic pigment deposited in articular cartilage and cartilage of the ear and sclera.
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收藏
页码：158 / 160
页数：3
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