伴有颞下颌关节强直和腭裂的少汗型外胚层发育不良：一种罕见的表现。

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation.

作者信息

Goyal Manisha, Pradhan Gaurav, Gupta Sunita, Kapoor Seema

机构信息

Department of Pediatrics, Division of Genetics and Metabolism, Maulana Azad Medical College, New Delhi, India.

Department of Radiodiagnosis, Maulana Azad Medical College, New Delhi, India.

出版信息

Contemp Clin Dent. 2015 Jan-Mar;6(1):110-2. doi: 10.4103/0976-237X.149304.

DOI:10.4103/0976-237X.149304

PMID:25684924

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4319327/

Abstract

The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

摘要

外胚层发育不良是一组异质性疾病，具有毛发、牙齿、指甲和汗腺中的一种或多种异常。少汗型外胚层发育不良（HED）是最常见的类型，通常作为X连锁隐性性状遗传。其特征为毛发稀疏、无汗/少汗、牙齿发育不全/无牙这一经典三联征。在此，我们描述了一名患有HED的印度男孩以及包括颞下颌关节强直和腭裂在内的罕见特征。