Settineri W M, Salzano F M, Fretas M J
J Med Genet. 1976 Jun;13(3):212-6. doi: 10.1136/jmg.13.3.212.
A total of 85 members of a family in which several individuals presented with hypodontia, hypotrichosis, and hypohidrosis were examined. Of these, 77 were evaluated clinically and the results compared with those obtained in an equal number of carefully chosen controls. The main symptoms among the affected males and females involved changes in the quantity and texture of head hair and in the distrubution of body hair. More than half of the males also showed precocious baldness, and 6 of them had dyskeratosis. The average of missing teeth was 12 among men with the syndrome, but only 2 among the obligate female carriers. The sweat pore counts were lower in the two sexes (42% and 60% of the normal values, respectively), and a much higher degree of asymmetry was observed especially among the affected women. Inheritance of the syndrome seems to be the result of a dominant sex-linked gene with 78% to 87.5% penetrance in the females. Genetic data concerning anhidrotic ectodermal dysplasia are still unsatisfactory; new, more detailed studies are needed, in which special attention is given to the female carriers.
对一个家族的85名成员进行了检查，该家族中有数人出现了牙齿发育不全、毛发稀少和出汗减少的症状。其中77人接受了临床评估，并将结果与同样数量精心挑选的对照组进行了比较。受影响的男性和女性的主要症状包括头发数量和质地的变化以及体毛分布的变化。超过一半的男性还出现了早发性秃顶，其中6人患有角化异常。患有该综合征的男性平均缺牙数为12颗，但在肯定的女性携带者中仅为2颗。两性的汗腺计数均较低（分别为正常值的42%和60%），并且观察到更高程度的不对称，尤其是在受影响的女性中。该综合征的遗传似乎是由一个显性性连锁基因导致的，在女性中的外显率为78%至87.5%。关于无汗性外胚层发育不良的遗传数据仍然不令人满意；需要进行新的、更详细的研究，其中要特别关注女性携带者。
