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双侧上睑下垂由罕见病因——厚皮性骨膜病引起。

Bilateral ptosis due to a rare cause-pachydermoperiostosis.

作者信息

Mahesh M, Murthy K V K S N

机构信息

Associate Professor of Medicine, Department of Medicine, JSS Medical College and Hospital, JSS University , Mysore, India .

出版信息

J Clin Diagn Res. 2013 Jul;7(7):1450-2. doi: 10.7860/JCDR/2013/6119.3185. Epub 2013 Jul 1.

DOI:10.7860/JCDR/2013/6119.3185
PMID:23998090
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3749660/
Abstract

Pachydermoperiostosis is a rare hereditary disorder that is characterised by pachydermia (thickening of the facial skin and/or scalp), and periostosis (swelling of the periarticular tissue and a subperiosteal new bone formation). Other associated features are arthralgia, polyarthritis, clubbing, seborrhoea, hyperhidrosis, hypertrophic gastropathy, peptic ulcer and gyanecomastia. Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common association. We are hereby reporting a patient with a complete form of Pachydermoperiostosis, wherein the presenting feature was bilateral ptosis.

摘要

厚皮性骨膜病是一种罕见的遗传性疾病,其特征为厚皮症(面部皮肤和/或头皮增厚)和骨膜病(关节周围组织肿胀及骨膜下新骨形成)。其他相关特征包括关节痛、多关节炎、杵状指、脂溢性皮炎、多汗症、肥厚性胃病、消化性溃疡和男性乳房发育。由眼睑增厚引起的上睑下垂(睑下垂)是一种较不常见的关联表现。我们在此报告一例完全型厚皮性骨膜病患者,其主要表现为双侧上睑下垂。

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本文引用的文献

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[Primary hypertrophic osteoarthropathy (pachydermoperiostosis). Report of two familial cases and literature review].[原发性肥厚性骨关节病(厚皮性骨膜病)。两例家族性病例报告及文献综述]
Reumatol Clin. 2009 Nov-Dec;5(6):259-63. doi: 10.1016/j.reuma.2009.01.007. Epub 2009 Sep 26.
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Pachydermoperiostosis (primary hypertrophic osteoarthropathy): in vitro evidence for abnormal fibroblast proliferation.
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Hypertrophic osteoarthropathy: rheumatologic manifestations.肥厚性骨关节病:风湿病学表现
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