Case of epidermolytic palmoplantar keratoderma with knuckle pads.
Case of epidermolytic palmoplantar keratoderma with knuckle pads.
复制标题
伴有指节垫的表皮松解性掌跖角化症一例。
DOI：
10.1111/j.1346-8138.2011.01226.x
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发表时间：
2012
期刊：
影响因子：
3.1
通讯作者：
Hayashi M
中科院分区：
文献类型：
--
作者：
Hayashi M;Suzuki T;Atsushi Tanemura;Hayashi M
Epiderecritic palmoplantar keratoderma（EPPK）（Online Mendelian Inheritance in Man 144200）是一种常染色体显性遗传的遗传性皮肤病，由Vorner于1901年首次描述。其临床特征是界限分明的手掌和脚底增厚，伴有黄色变色和肿胀的边缘。负责EPPK的基因是角蛋白9基因（KRT 9），2其仅在掌跖表皮的基底上角化细胞中表达。3角蛋白9（K9）是角蛋白间丝超家族的成员，对维持上皮细胞的细胞骨架至关重要。4突变K9削弱细胞骨架，过度角化反应发生在机械摩擦。5、6部分EPPK患者可见指关节垫或指关节垫样角化。7-12虽然机械摩擦和/或KRT 9突变被认为是其原因，但其发病机制仍不确定。在此，我们报告一位26岁的日本男性，因手掌及脚底皮肤增厚而就诊于我科，并伴有指关节垫及独特的角化性关节炎的EPPK。他从小就意识到这种症状。他的父母没有血缘关系。他的母亲、他的姐妹篇和他的儿子的手掌和脚底也有类似的症状。没有一个受影响的家庭成员显示他们手上的指关节垫。患者在建筑领域担任工程师多年。初次就诊时，双侧手掌和脚掌弥漫性增厚，并伴有淡黄色（图1a，B）。角化过度的边缘是圆形的，在手掌侧界限清楚，尽管角化性红斑均匀地分布在他的背侧的远端部分，
Dear Editor, Epidermolytic palmoplantar keratoderma (EPPK)(Online Mendelian Inheritance in Man 144200) is an autosomal dominant inherited genodermatosis first described by Vorner1 in 1901. Its clinical features are well-demarcated thickening of the palms and the soles with a yellowish discoloration and an erythematous border. The gene responsible for EPPK is the keratin 9 gene (KRT 9), 2 which is exclusively expressed in the suprabasal keratinocytes of the palmoplantar epidermis. 3 Keratin 9 (K9) is member of the keratin interfilament superfamily and is essential for maintaining the cytoskeleton of epithelial cells. 4 Mutant K9 weakens the cytoskeleton and excessive hyperkeratosis occurs in response to mechanical friction. 5, 6 Knuckle pads or knuckle pad-like keratosis may be seen in some patients with EPPK. 7–12 Though mechanical friction and⁄ or a KRT 9 mutation are suggested as its cause, its pathogenesis remains uncertain. Here, we report a Japanese patient with EPPK with knuckle pads and a unique distribution of keratotic erythema.A 26-year-old Japanese man presented to our division due to thickened skin on the palms of his hands and soles of his feet. He was aware of this symptom since early childhood. His parents were not consanguineous. His mother, his sisters and his son had similar symptoms on their palms and soles. None of the affected family members showed knuckle pads on their hands. The patient had been working as an engineer for several years in the construction field. At first presentation, a diffuse thickening of his palms and soles with a yellowish discoloration was seen bilaterally (Fig. 1a, b). The border of hyperkeratosis was erythematous and well-circumscribed on the palmar side, though keratotic erythema was evenly spread onto the distal portion of the dorsal aspect of his