Pabst H F, Groth O, McCoy E E
J Pediatr. 1981 Feb;98(2):223-7. doi: 10.1016/s0022-3476(81)80639-7.
Two brothers with hypohidrotic ectodermal dysplasia were found to have urticaria pigmentosa-like skin pigmentation with increased mast cells and melanin depositions in the dermis. Structural ciliary abnormalities of the respiratory tract were seen, and these may contribute to their severe recurrent chest infections. Primary hypothyroidism occurred in both by 3 years of age and responded to replacement therapy. The abnormalities seen appear to be the result of a common genetic aberration causing a particular sequence of maldevelopments during embryogenesis. This form of hypohidrotic ectodermal dysplasia associated with hypothyroidism gives a unique insight into the potential extent of structural defects of ectodermal dysplasias.
发现两名患有少汗性外胚层发育不良的兄弟患有色素性荨麻疹样皮肤色素沉着，真皮中肥大细胞和黑色素沉积增加。观察到呼吸道存在结构性纤毛异常，这可能是导致他们严重反复胸部感染的原因。两人均在3岁前出现原发性甲状腺功能减退，替代治疗有效。所观察到的异常似乎是由一种常见的基因畸变导致胚胎发育过程中特定发育异常序列的结果。这种与甲状腺功能减退相关的少汗性外胚层发育不良形式，为深入了解外胚层发育不良的潜在结构缺陷程度提供了独特视角。
