先证者,男,40岁。北京人。生后即发现十趾甲均增厚,并逐渐加重。6岁时十指甲亦逐渐粗糙,增厚。手掌及足底皮肤呈进行性增厚,时常起水疱及脓疱,疼痛难忍,行走困难。手掌,足底出汗较多。自幼皮肤干燥粗糙,双上臂常年呈鸡皮样外观,冬重夏轻。系统体查未见异常。皮肤科情况:全部指、趾甲均增厚,趾甲更明显,甲板粗糙、污浊、向上凸出,全部指趾甲下均有大量的黄褐色角化性物堆积, Proof, male, 40 years old. Pekingese. Ten toenails were found after birth to thickening, and gradually increased. At age 6, fingernails are gradually roughened and thickened. Progressive thickening of the skin of the hands and feet, often blisters and pustules, pain unbearable, walking difficulties. Hand, foot sweat more. Dry and rough skin since childhood, the upper arm was perennial peel-like appearance, winter and summer light. System investigation no abnormalities. Dermatology: All means, toenails are thicker, more obvious toenails, deck rough, dirty, upward bulge, all under the nails have a large number of brown keratosis accumulation,