Bell M, Hoede N, Schopf R E
Universitäts-Hautklinik Mainz.
Hautarzt. 1993 Nov;44(11):738-41.
An 11-year-old Turkish boy who has suffered from palmoplantar keratosis since his first year of life is presented. He is the only one of a large family to be affected. The diffuse keratosis extends to the back of the hands and feet and still has a progressive course. At the age of 6 he developed a symmetric high-tone acoustic impairment and at 10, an ainhum-like constricting band around the fifth digit of the left hand. This constellation of symptoms is highly characteristic for mutilating keratoma (Vohwinkel's disease), which is a rare disorder of keratinization. The majority of cases in the literature have had an autosomal dominant pattern of inheritance, although sporadic cases like this have also been reported as well. If constricting band proceeds to the point where spontaneous amputation seems imminent, a therapy with orally administered retinoids should be considered.
本文介绍了一名11岁的土耳其男孩，他自1岁起就患有掌跖角化病。他是一个大家庭中唯一受影响的人。弥漫性角化病延伸至手背和脚背，且仍在进展。6岁时，他出现了对称性高音听力障碍，10岁时，左手小指周围出现了类似先天性断肢的紧缩带。这种症状组合是致残性角化瘤（Vohwinkel病）的高度特征性表现，这是一种罕见的角化障碍疾病。文献中的大多数病例呈常染色体显性遗传模式，不过也有像这样的散发病例报道。如果紧缩带发展到似乎即将自发截肢的程度，应考虑口服维甲酸进行治疗。
