Lucky A W, Esterly N B, Tunnessen W W
J Am Acad Dermatol. 1980 May;2(5):379-84. doi: 10.1016/s0190-9622(80)80359-8.
Two unrelated children, a girl and a boy, with alopecia, anomalous cutaneous pigmentation, abnormal thumbs, and endocrine disorders, including short stature and delayed bone age in one patient and juvenile onset diabetes mellitus in the other, are described. In one instance, the mother and the maternal grandmother had similar abnormalities, although of a less severe nature. Both children had normal nails and no unusual susceptibility to infections. We believe these two patients represent a previously undescribed syndrome of ectodermal dysplasia that may be inherited as an autosomal-dominant trait.
本文描述了两名无血缘关系的儿童,一男一女,均患有脱发、皮肤色素沉着异常、拇指异常以及内分泌紊乱,其中一名患者身材矮小且骨龄延迟,另一名患者患有青少年型糖尿病。在一个病例中,母亲和外祖母有类似异常,不过症状较轻。两名儿童指甲均正常,且没有异常的感染易感性。我们认为这两名患者代表了一种此前未被描述的外胚层发育异常综合征,可能作为常染色体显性性状遗传。