Passarge E, Fries E
Birth Defects Orig Artic Ser. 1977;13(3C):95-100.
Sweat pores on the epidermal ridges are hypoplastic and reduced in number in three sisters affected with autosomal recessive hypohidrotic dysplasia. The heterozygote state is expressed by a reduced number of qualitatively normal sweat pores (14.07 +/- 8.59 as compared to 22.27 +/- 2.33 in controls). Clinical and genetic considerations suggest that this may be a distinct type that has to be differentiated from other autosomal recessive hypohidrotic ectodermal dysplasias. Heterozygote manifestation may contribute to delineate this groups of disorders further.
在患有常染色体隐性少汗性发育异常的三姐妹中，表皮嵴上的汗孔发育不全且数量减少。杂合子状态表现为数量减少但性质正常的汗孔（与对照组的22.27±2.33相比，为14.07±8.59）。临床和遗传学方面的考虑表明，这可能是一种独特的类型，必须与其他常染色体隐性少汗性外胚层发育异常相区分。杂合子表现可能有助于进一步明确这组疾病。
