门综合征：病例报告。

Doors Syndrome: Case Report.

作者信息

Cebeci Dua, Rıfkı Didem

机构信息

Department of Dermatology, Famagusta State Hospital, Famagusta, Cyprus.

Department of Otorhinolarngology, Famagusta State Hospital, Famagusta, Cyprus.

出版信息

Indian J Dermatol. 2022 Mar-Apr;67(2):161-163. doi: 10.4103/ijd.ijd_676_21.

DOI:10.4103/ijd.ijd_676_21

PMID:36092206

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9455087/

Abstract

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.

摘要

DOORS综合征是一种常染色体隐性遗传神经代谢障碍疾病。男女发病率相同。主要病因包括TBC1D 24基因突变和遗传因素。在此，我们讨论一名23岁男性患者，他因脚趾无甲症前来我院就诊，经诊断患有DOORS综合征，并伴有其他临床症状。