MAJOR HEREDITARY ECTODERMAL DYSPLASIA
MAJOR HEREDITARY ECTODERMAL DYSPLASIA
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DOI：
10.1016/s0022-3476(51)80108-2
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发表时间：
1951-01-01
影响因子：
5.1
通讯作者：
ELLINGSON, RJ
中科院分区：
文献类型：
--
作者：
ELLINGSON, RJ
遗传性外胚叶缺陷由于缺乏的结果并不少见.脱发、去汗腺、热量调节是指甲缺陷等疾病。当休息时在正常的遗传起源下经常发生温度条件下，在某些地区不敏感。这些情况是呼吸正常，体温正常，通常不会导致身体失能，真正的正常。然而，当他们中的一些人确实施加了额外的环境温度很高或普通的问题，个人正在从事艰苦的精神和社会广告-体力活动，体温调节领域。这里所描述的病例迅速增加。2在夏季呈现的图片外胚层缺陷个月的个人是疲劳和足够严重的，以造成严重的精神冷漠，往往崩溃，如果亚生理问题和某种程度上jeted太多的热量或消耗。身体上的无能在所列的症状中，有三种”主要”遗传性外胚层发育不良似乎具有特殊的诊断价值：下胚层发育不良，相对而言，是无汗症、无汗症和腺样体。在文学中很少见。然而，许多患者的遗传性外症状的各种情况下，其中皮肤发育不良只有一个或两个已报告的是如此相似，这些症状，而不是他们可以被认为是构成整个综合征。遗传性外胚层发育不良是一种明确的综合征，简称为遗传性外胚层发育不良。简单地说，这里所用的症状是指上述三联征。皮肤干燥、光滑、柔韧，是症状加上附属症状的综合征。有一个完整的或接近完整的这种疾病似乎是性连锁的汗腺（除了轴）的缺乏，与男性显示的症状皮脂腺，毛囊，和女性主要作为trans-Lanugo头发是缺席。头皮上的头发是手套。2，3，9然而，在一种情况下，重新解析，干燥，脆。前额有端口，女性表现出充分通常是突出的，鼻子综合征2一些“较小”畸形（鞍鼻）。遗传性外胚叶发育不全的嘴唇厚而肌肉发达。有可能是通过其他方式传播的发育，没有牙齿或一些畸形的。(eg鼻腔常为畸形，特征为：并且味觉和嗅觉可能受损。最后，还注意到一种倾向，即病例报告显示存在精神缺陷。两个病人（保罗和威尔）
EREDITARY ectodermal defects In consequence of the absence of are not uncommon. Alopecia, de-sweat glands, heat regulation is defecfects of the nails, and like disorders tive. When resting Under normal of hereditary origin occur frequently temperature conditions, insensible perin some areas. 1 Such conditions are spiration is normal and body temperausually not physically incapacitating, ture is normal. However, when the but some of them do impose extra-environmental temperature is high or ordinary problems upon the individual the individual is engaging in strenuous in the area of mental and social ad-physical activity, the body temperature justment. The cases described here rises rapidly. 2 During the summer present a picture of ectodermal defect months the individual is fatigued and sufficiently severe to cause serious psy-apathetic, and often collapses if subchological problems and some degree jeeted to too much heat or exertion. of physical incapacity. Of the symptoms listed, three seem Cases of" major" hereditary ecto-to be of special diagnostic value: hypodermal dysplasia are comparatively trichosis, anhidrosis, and adontia. rare in the literature. I-Iowever, the Many patients with hereditary ectosymptoms of the various cases which dermal dysplasia have only one or two have been reported are so similar, that of these symptoms rather than the they may be considered to constitute entire syndrome. The term major a definite syndrome, hereditary ectodermal dysplasia as Briefly, the symptoms are these, used here will refer to the above triad The skin is dry, smooth, and pliable, of symptoms plus ancillary symptoms. There is a complete Or nearl $ complete This disorder seems to be sex-linked absence of sweat glands (except axial), with males displaying the symptoms sebaceous glands, and hair follicles, and females acting mainly as trans-Lanugo hair is absent. Scalp hair is mitters. 2, 3, 9 However, in one case resparse, dry, and brittle. The forehead ported, a female exhibited the full is usually prominent, and the nose syndrome2 Some of the" lesser" malformed (saddle nose). The lips forms of hereditary ectodermal dysare thick and muscular. There may plasia are transmitted in other ways be no teeth or a few malformed ones.(eg, as simple Mendelian dominant The nasal cavities are often malformed, charaeters~). and the senses of taste and smell may be impaired. Finally, a tendency to- CASE REPORTS ward mental deficiency has been noted. The two patients (Paul and Wil-