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一名出现手指固定性屈曲畸形和皮肤条纹的患者被诊断为先天性屈曲指合并良性关节过度活动综合征。

A Diagnosis of Camptodactyly With Benign Joint Hypermobility Syndrome in a Patient Presenting With Fixed Flexion Deformity of the Fingers and Striae.

作者信息

Nishanth Sekar, Ushagowry Saravanamuttu

机构信息

Internal Medicine, Teaching Hospital Batticaloa, Batticaloa, LKA.

Rheumatologist, National Hospital of Sri Lanka, Colombo, LKA.

出版信息

Cureus. 2022 Jun 21;14(6):e26148. doi: 10.7759/cureus.26148. eCollection 2022 Jun.

Abstract

Camptodactyly is a genetic disorder that causes fixed flexion deformity of one or more fingers of single or both hands. It is very rare and the occurrence is very low amongst the children. It is linked to a handful of congenital connective tissue syndromes. It is passed onto generations with reduced expressivity. However, its association with benign joint hypermobility syndrome is rarely known. Joint hypermobility syndrome is a condition where there is extreme joint flexibility and it is related to a set of articular and extra-articular sequelae. We herein report a case of camptodactyly with benign joint hypermobility syndrome in a patient presenting with fixed flexion deformity of the fingers, joint hyperextensibility, and striae.

摘要

屈曲指是一种遗传性疾病,可导致单手或双手的一根或多根手指出现固定性屈曲畸形。它非常罕见,在儿童中的发病率很低。它与少数先天性结缔组织综合征有关。它以表达减弱的方式代代相传。然而,它与良性关节过度活动综合征的关联却鲜为人知。关节过度活动综合征是一种关节极度灵活的病症,与一系列关节内和关节外后遗症有关。我们在此报告一例患有屈曲指并伴有良性关节过度活动综合征的患者,该患者表现为手指固定性屈曲畸形、关节过度伸展和皮肤条纹。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b180/9302035/21db4d7260e2/cureus-0014-00000026148-i01.jpg

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