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迟发性进行性骨化性纤维发育不良伴非典型表现:一例报告

Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report.

作者信息

Cunningham Conor M, Royeca J Matthew, King Samuel W, Pandit Hemant

机构信息

Indiana University School of Medicine, 340 West 10th Street, Indianapolis, IN 46202, USA.

Leeds Institutes of Rheumatology and Musculoskeletal Medicine, University of Leeds, Chapel Allerton Hospital, Chapeltown Rd, Leeds LS7 4SA, UK.

出版信息

Case Rep Womens Health. 2019 Jul 19;23:e00134. doi: 10.1016/j.crwh.2019.e00134. eCollection 2019 Jul.

Abstract

Fribrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification of connective tissues, episodic flare-ups and bilateral deformities of the great toe (hallux valgus). As faulty tissue repair processes progressively calcify tissue, patients suffer from swelling and limited mobility in that area. We present a case of a 66-year-old woman who had initially presented at age 54 without the hallux valgus deformity or classic-type flare-ups. As there is currently no cure for FOP, management is mainly symptom control. Physicians should still consider FOP if imaging indicates progressive heterotopic ossification in the absence of hallux valgus in an older patient.

摘要

进行性骨化性纤维发育不良(FOP)是一种罕见的遗传性疾病,其特征为结缔组织进行性异位骨化、发作性炎症以及大脚趾双侧畸形(拇外翻)。由于错误的组织修复过程会使组织逐渐钙化,患者会出现该部位肿胀和活动受限的症状。我们报告一例66岁女性病例,该患者最初在54岁时就诊,当时没有拇外翻畸形或典型的炎症发作。由于目前尚无治愈FOP的方法,治疗主要是控制症状。如果影像学检查显示老年患者在没有拇外翻的情况下出现进行性异位骨化,医生仍应考虑FOP。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f11/6664093/47056ad684be/gr1.jpg

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