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厚皮性多指(趾)畸形,类风湿手的模仿者,出现在一名结节性硬化症患者身上。

Pachydermodactyly, mimicker of rheumatoid hands, presents in a patient with Tuberous Sclerosis.

作者信息

Tariq Halla, Ihsan Aroosha, Khan Asadullah, Shamim Roshila

机构信息

Dr. Halla Tariq, MBBS., 807 Eucalyptus Court Lodi California 95242, US.

Dr. Aroosha Ihsan, MBBS., Anatomy Lecturer, Wah Medical College, Pakistan.

出版信息

Pak J Med Sci. 2023 Mar-Apr;39(2):624-627. doi: 10.12669/pjms.39.2.6631.

Abstract

Pachydermodactyly (PDD) is a rare benign condition characterized by painless soft tissue swelling of small joints of hands. The most common presentation is bilateral Symmetrical swelling of proximal interphalangeal and metacarpophalangeal joint similar to Rheumatoid arthritis. The etiology of this disease is unknown, and it sometimes can coexist with other diseases. We present here a case of PDD coexisting with Tuberous Sclerosis, an autosomal dominant genetic disorder characterized by of formation of multiple benign multisystem tumors.

摘要

厚皮性多指(趾)畸形(PDD)是一种罕见的良性病症,其特征为手部小关节无痛性软组织肿胀。最常见的表现是近端指间关节和掌指关节双侧对称性肿胀,类似于类风湿关节炎。该病病因不明,有时可与其他疾病共存。我们在此报告一例PDD与结节性硬化症共存的病例,结节性硬化症是一种常染色体显性遗传病,其特征是形成多个良性多系统肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bfc/10025706/53ac42d6e8e0/PJMS-39-624-g001.jpg

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