Kumar Kiran, Shetty Devi Charan, Dua Mahima, Dua Amit, Dhanapal Raghu
Department of Oral & Maxillofacial Pathology, I.T.S-CDSR, Muradnagar, Ghaziabad 201206, India.
Case Rep Dent. 2012;2012:281074. doi: 10.1155/2012/281074. Epub 2012 Dec 18.
Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is estimated to affect at least one in 17000 people worldwide. We report a rare case of HED in a 14-year-old male child patient which extraorally manifested as alopecia, scanty eyebrow and eye lashes, frontal bossing, depressed nasal bridge, and full and everted lips. Intraoral examination revealed complete anodontia of the deciduous teeth and partial anodontia of the permanent teeth. It is usually inherited as an X-linked recessive trait caused by mutation in any of the three EDA pathway genes. X-linked and autosomal recessive forms are phenotypically similar; thus, identification of carriers of partial forms of the disorder in their families is the key to clarifying intrafamilial genetic transmission.
少汗型（无汗型）外胚层发育不良（HED）是一种先天性综合征，其特征为毛发稀疏、少牙症和出汗减少。据估计，全球至少每17000人中就有1人受其影响。我们报告了一例14岁男性儿童患者的罕见HED病例，其口腔外表现为脱发、眉毛和睫毛稀少、额部隆起、鼻梁凹陷以及嘴唇丰满外翻。口腔检查发现乳牙完全无牙症和恒牙部分无牙症。它通常作为一种X连锁隐性性状遗传，由三个EDA通路基因中的任何一个发生突变引起。X连锁和常染色体隐性形式在表型上相似；因此，识别其家族中该疾病部分形式的携带者是阐明家族内遗传传递的关键。
