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- The clinicopathologic features and family history are compatible with epidermolytic palmoplantar keratoderma. 临床病理表现及家族史都符合掌蹠表皮松解性角化症的诊断。
- Conclusion The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family. 结论:角蛋白9基因的G485A突变是导致该家系发生弥漫性掌蹠角化病的原因。
- Epidermolytic palmoplantar keratoderma, a rare autosomal dominant hereditary disease, is a keratinization disorder of palms and soles caused by mutation in the keratin 9 gene. 掌蹠表皮松解性角化症是一罕见体显性遗传疾病,主要是因为九号角质素基因发生突变而引起掌蹠角化异常。
- epidermolytic hereditary palmoplantar keratoderma 表皮松解性遗传性掌跖皮肤角化病
- hereditary epidermolytic palmoplantar keratoderma 遗传性表皮松解性掌跖角化病
- hereditary palmoplantar keratoderma 遗传性掌跖角皮病
- progressive palmoplantar keratoderma 进行性掌跖角皮病
- punctate palmoplantar keratoderma 点状掌跖角皮病
- variable palmoplantar keratoderma 可变性掌跖皮肤角化病
- diffuse palmoplantar keratoderma 弥漫性掌跖角化病
- palmoplantar keratoderma with corneal dystrophy 播散性掌跖皮肤角化病伴角膜营养不良
- palmoplantar keratoderma with leukoplakia 掌跖皮肤角化病伴粘膜白斑
- palmoplantar keratoderma with periodontosis 掌跖皮肤角化病伴牙周病
- palmoplantar keratoderma, diffuse 弥漫性掌跖角化病
- circumscribed palmoplantar keratoderma 局限性掌跖角皮病
- mutilating palmoplantar keratoderma 断肢性掌跖角皮病
- A familiar report of 5 cases with punctate palmoplantar keratoderma 点状掌跖角皮病一家5例
- palmoplantar keratoderma with cancer of the esophagus 掌跖皮肤角化病伴食道癌
- disseminated palmoplantar keratoderma with corneal dystrophy 播散性掌跖角皮病伴角膜营养不良
- Keywords palmoplantar keratoderma;linkage analysis;KRT9 gene; 掌跖角化病;连锁分析;角蛋白9基因;