HEREDITARY ECTODERMAL DYSPLASIA OF THE ANHYDROTIC TYPE: WITH SYMPTOMS OF ADRENAL MEDULLA INSUFFICIENCY AND WITH ABNORMALITIES OF THE BONES OF THE SKULL
HEREDITARY ECTODERMAL DYSPLASIA OF THE ANHYDROTIC TYPE: WITH SYMPTOMS OF ADRENAL MEDULLA INSUFFICIENCY AND WITH ABNORMALITIES OF THE BONES OF THE SKULL
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无水型遗传性外胚层发育不良：伴有肾上腺髓质功能不全的症状和颅骨异常
DOI：
10.1001/jama.1936.02770110024008
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发表时间：
1936
期刊：
影响因子：
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通讯作者：
S. J. Thannhauser
中科院分区：
文献类型：
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作者：
S. J. Thannhauser
1838年，Widderburn报告了一个非常惊人的皮肤异常，他在一个印度教家庭的十名男性中观察到。这种异常的症状包括完全无法出汗（脱水）、头皮、腋毛和阴毛缺乏（少毛症）以及牙齿部分缺失或发育不全（无牙）。近年来，Thadani报道了在近亲繁殖很常见的地区的印度教家庭中发生的类似案件。在欧洲人中，瑟曼（1848年）、威廉姆斯（1848年）、吉尔福德（1883年）和哈钦森（1886年）描述了类似的遗传性外胚层异常。吉尔福德在1883年报告了他的病人鞍鼻的存在，并确定了病人家庭中受影响的成员也有同样的鼻子畸形。哈钦森观察到乳头上有一个缺陷，这一发现并不存在于所有病例中。在1902年的德国文学Tendlau。魏克泽尔曼
In 1838 Widderburn reported a very striking anomaly of the skin which he observed in ten males of a Hindu family. The symptomatic triad of this anomaly consisted of complete inability to sweat (anhydrosis), a deficiency of the scalp, axillary and pubic hair (hypotrichosis) and partial absence or an incomplete development of the teeth (anadontia). In recent years Thadani has reported similar cases occurring in Hindu families from a district where inbreeding is common. Among Europeans Thurman in 1848, Williams in 1848, Guilford in 1883 and Hutchinson in 1886 described similar hereditary ectodermal anomalies. Guilford in 1883 reported the existence in his patient of a saddle nose and established the fact that the afflicted members of the patient's family had the same deformity of the nose. Hutchinson observed a defect on the mamilla, a finding that is not present in all cases. In the German literature Tendlau in 1902. Weichselmann