Powell F C, Venencie P Y, Gordon H, Winkelmann R K
Br J Dermatol. 1983 Nov;109(5):589-96. doi: 10.1111/j.1365-2133.1983.tb07684.x.
Punctate keratoderma and spastic paralysis occurred in three generations of a family. Several members had keratoderma of the palms and soles or spastic paralysis or both. The family history was consistent with autosomal-dominant inheritance. The age at onset and the rate of progression of symptoms were variable. The concurrence of these lesions can be interpreted to mean either that the keratoderma and the paraplegia are the pleiotropic effects of the same mutant gene or, less likely, that they are the manifestations of two different autosomal mutations segregating in this family. We are not aware of a similar syndrome having been previously reported.
一个家族的三代人中出现了点状角化病和痉挛性麻痹。几名成员患有掌跖角化病或痉挛性麻痹,或两者皆有。家族史符合常染色体显性遗传。发病年龄和症状进展速度各不相同。这些病变的同时出现可以解释为角化病和截瘫是同一突变基因的多效性效应,或者可能性较小的是,它们是在这个家族中分离的两个不同常染色体突变的表现。我们不知道此前是否有类似综合征的报道。