Hereditary ectodermal dysplasia (congenital ectodermal defect) - A report of two cases
Hereditary ectodermal dysplasia (congenital ectodermal defect) - A report of two cases
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DOI：
10.1001/archpedi.1929.01930040075005
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发表时间：
1929-04-01
影响因子：
--
通讯作者：
Weech, AA
中科院分区：
文献类型：
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作者：
Weech, AA
不同种族和性别的两例患者都表现出毛发和牙齿缺陷、颅骨发育异常、鼻梁发育不良和嘴唇过厚。每个人都有其他一些异常的特征，[男性]受试者没有汗腺。后一名患者有一个正常的兄弟和一个与他相似的兄弟，但没有其他已知的亲属表现出这种情结。这个女孩有两个正常的兄弟姐妹，但在她父亲这边，头发和牙齿都有缺陷。先前已有10例病例报道，作者建议将其归类为遗传性外胚层发育不良，再细分为无汗腺型，包括无汗腺型。给出了详细的描述，并讨论了可能的病因和遗传条件。这种表现不能与吉尔福德的“早衰症”相混淆，两者有些相似。
Two cases, of different race and sex, agree in showing defective hair and teeth, unusual development of bones of the skull, maldeveloped bridge of the nose and excessively thick lips. Each is also characterized by several other anomalies, the [male] subject being without sweat glands. The latter patient had one brother normal and one similar to himself but no other known relatives showing the complex. The girl had 2 normal sibs, but on her father''s side, hair and teeth deficiencies were known to occur. Ten previous cases have been reported and the author proposes to group them all under the designation hereditary ectodermal dysplasia with the subdivision anhidrotic type to include those without sweat glands. Detailed descriptions are given and the possible etiology and heredity of the conditions discussed. This manifestation is not to be confused with Gilford''s "progeria," which it somewhat resembles.