Doors Syndrome: Case Report

被引：0

作者：

Cebeci, Duo ^{[1
]}

Fifki, Didem ^{[2
]}

机构：

[1] Famagusta State Hosp, Dept Dermatol, Gazimagusa, Cyprus

[2] Famagusta State Hosp, Dept Otorhinolarngol, Gazimagusa, Cyprus

来源：

INDIAN JOURNAL OF DERMATOLOGY | 2022年 / 67卷 / 02期

关键词：

Deafness; genetic disorder; mental retardation; onychodystrophy; DEAFNESS;

D O I：

10.4103/ijd.ijd_676_21

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

DOORS syndrome is an autosomal recessive genetic neurometabolic disorder. It occurs equally in men and women. Major causes include TBC1D 24 mutations and genetic factors. Here, we discuss a 23-year-old male patient who applied to our clinic with anonychia of the toes and was diagnosed with DOORS syndrome with other accompanying clinical symptoms.

引用

页码：161 / 163

页数：3

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