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[厚皮性骨膜病]

[Pachydermoperiostosis].

作者信息

Jansen T, Brandl G, Bandmann M, Meurer M

机构信息

Dermatologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München.

出版信息

Hautarzt. 1995 Jun;46(6):429-35. doi: 10.1007/s001050050279.

Abstract

Pachydermoperiostosis (Friedreich-Erb-Arnold syndrome, Touraine-Solente-Golé syndrome) is a rare disease with an autosomal dominant mode of inheritance; it occurs almost exclusively in men. A report of typical pachydermoperiostosis in a 31-year-old man is presented. Associated features were clubbed digits of the hands and feet with watch-crystal nails, thickening of the skin and soft tissues, hyperhidrosis of hands and feet, hyperplasia of the sebaceous glands with seborrhoea, gynaecomastia, and ophthalmic abnormalities that had been present since puberty. Radiological examination revealed periosteal hyperostosis of the short and long bones. Endocrine disturbances were not detected. Skin biopsies showed hypertrophy of the skin and skin appendages. Primary (idiopathic, hereditary) pachydermoperiostosis should be distinguished from secondary (symptomatic) forms of the disease, which are often associated with lung tumours.

摘要

厚皮性骨膜病(弗里德里希 - 埃尔布 - 阿诺德综合征、图赖讷 - 索伦特 - 戈莱综合征)是一种罕见的常染色体显性遗传病,几乎仅见于男性。本文报告了一名31岁男性典型厚皮性骨膜病病例。相关体征包括手足杵状指伴表玻璃样指甲、皮肤及软组织增厚、手足多汗、皮脂腺增生伴脂溢性皮炎、男性乳房发育以及自青春期起就存在的眼部异常。放射学检查显示短骨和长骨骨膜增生。未检测到内分泌紊乱。皮肤活检显示皮肤及皮肤附属器肥大。原发性(特发性、遗传性)厚皮性骨膜病应与继发性(症状性)厚皮性骨膜病相鉴别,继发性厚皮性骨膜病常与肺部肿瘤相关。

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