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[骨斑点症——皮肤与关节表现]

[Osteopoikilosis--skin and joint manifestations].

作者信息

Colla F, Brühlmann P, Panizzon R, Michel B A

机构信息

Rheumaklinik, Universitätsspital, Zürich, Schweiz.

出版信息

Z Rheumatol. 1995 Mar-Apr;54(2):123-7.

PMID:7793159
Abstract

Osteopoikilosis (Osteopathia condensans disseminata) is a rare and usually asymptomatic sclerosing bone dysplasia of unknown origin. Familial clustering suggests a dominant inheritance. The observation of a 47-year-old woman lead to differential diagnostic considerations in view of the literature on about 350 cases. For 2 years the patient has been complaining about pain and stiffness of both hands with swelling of the fingers. Additionally, she remarked about bilateral paresthesias corresponding to the sensory innervation of the median nerve. Clinical examination revealed a sensory carpal tunnel syndrome and mild synovitis of the proximal interphalangeal joints with skin induration and limited flexion of the fingers. In addition, some finger and toe nails showed pitting and most fingers had scar-like linear skin alterations. Radiologic findings showed symmetric, well-defined, homogeneous sclerosing areas in spongy bone. The combination of symmetrical sclerosing bone densities, hereditary character, and associated skin and joint manifestations suggests the existence of a general connective tissue disease.

摘要

骨斑点症(弥漫性致密性骨炎)是一种罕见的、通常无症状的、病因不明的硬化性骨发育异常。家族聚集现象提示为显性遗传。鉴于约350例病例的文献报道,对一名47岁女性的观察引发了鉴别诊断的思考。两年来,该患者一直抱怨双手疼痛、僵硬,手指肿胀。此外,她还提到双侧感觉异常,与正中神经的感觉神经支配相对应。临床检查发现感觉性腕管综合征,近端指间关节轻度滑膜炎,伴有皮肤硬结和手指屈曲受限。此外,一些手指甲和脚趾甲出现凹点,大多数手指有瘢痕样线性皮肤改变。放射学检查结果显示松质骨内有对称、边界清晰、均匀的硬化区。对称的硬化性骨密度、遗传特征以及相关的皮肤和关节表现提示存在一种全身性结缔组织疾病。

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