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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.

DOI:10.12669/pjms.39.2.6631
PMID:36950423
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10025706/
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/bc4309d85694/PJMS-39-624-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bfc/10025706/53ac42d6e8e0/PJMS-39-624-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bfc/10025706/bc4309d85694/PJMS-39-624-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bfc/10025706/53ac42d6e8e0/PJMS-39-624-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bfc/10025706/bc4309d85694/PJMS-39-624-g002.jpg

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本文引用的文献

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Unilateral pachydermodactyly misdiagnosed as juvenile idiopathic arthritis: A case report.单侧厚皮性骨膜病误诊为幼年特发性关节炎:一例报告。
Medicine (Baltimore). 2022 Jan 21;101(3):e28663. doi: 10.1097/MD.0000000000028663.
2
Pachydermodactyly.厚皮性指节垫
Mayo Clin Proc. 2020 Oct;95(10):2280-2281. doi: 10.1016/j.mayocp.2020.08.013.
3
Pachydermodactyly: a systematic review.厚皮性指节垫:一项系统评价
Ir J Med Sci. 2021 Aug;190(3):1005-1014. doi: 10.1007/s11845-020-02378-1. Epub 2020 Oct 1.
4
Surgical Management of Unilateral Soft Tissue Swelling around the Proximal Interphalangeal Joint in an Adolescent: A Case Report of Pachydermodactyly.青少年近端指间关节周围单侧软组织肿胀的手术治疗:厚皮性多指畸形病例报告
Case Rep Orthop. 2015;2015:242078. doi: 10.1155/2015/242078. Epub 2015 Nov 24.
5
Pachydermodactyly: a review.厚皮性指节垫:综述
Curr Rheumatol Rep. 2014;16(9):442. doi: 10.1007/s11926-014-0442-7.
6
Pachydermodactyly: Three new cases in Taiwan.厚皮性骨膜病:台湾的三个新病例。
J Microbiol Immunol Infect. 2015 Jun;48(3):340-4. doi: 10.1016/j.jmii.2012.09.002. Epub 2012 Dec 3.
7
Effect of dihydrotestosterone on cultured human tenocytes from intact supraspinatus tendon.二氢睾酮对完整肩袖冈上肌腱人腱细胞培养的影响。
Knee Surg Sports Traumatol Arthrosc. 2010 Jul;18(7):971-6. doi: 10.1007/s00167-009-0953-3. Epub 2009 Oct 27.
8
Letter: Pachydermodactyly: a variant of the true knuckle pad.信函:厚皮指节垫:真性指节垫的一种变体。
Arch Dermatol. 1975 Apr;111(4):524.