Camisa C, Rossana C
Arch Dermatol. 1984 Oct;120(10):1323-8.
Keratoderma hereditaria mutilans (KHM), or Vohwinkel's syndrome, is a rare genodermatosis consisting of hyperkeratosis of the palms and soles with a characteristic "honeycomb" appearance, keratotic structures taking the shape of a starfish and/or knuckle pads on the dorsal surfaces of the hands, and constricting bands (pseudoainhum) encircling digits of the hands and feet. We describe three cases of a variant of KHM with an associated ichthyosiform dermatosis in a pedigree consisting of 19 affected individuals through six generations. An autosomal dominant inheritance pattern for KHM was confirmed. One of the patients was successfully treated with isotretinoin, 0.6 mg/kg/day orally. We offer five hypothetical genetic models to account for the simultaneous expression of palmar-plantar keratoderma and ichthyosiform dermatosis.
遗传性残毁性角皮病（KHM），即Vohwinkel综合征，是一种罕见的遗传性皮肤病，表现为手掌和足底角化过度，呈特征性的“蜂窝状”外观，手部背侧有海星状和/或指节垫样的角化结构，以及环绕手足指（趾）的缩窄带（假阿洪病）。我们描述了一个家系中3例伴有鱼鳞病样皮肤病的KHM变异型病例，该家系中有19名患者，历经六代。证实了KHM的常染色体显性遗传模式。其中一名患者口服异维A酸，剂量为0.6mg/kg/天，治疗成功。我们提出了五种假设的遗传模型，以解释掌跖角皮病和鱼鳞病样皮肤病的同时表达。
