有症状的畸形:病例报告

IF 0.9 Q4 RHEUMATOLOGY Modern rheumatology case reports Pub Date : 2024-10-29 DOI:10.1093/mrcr/rxae064
Ayaka Ito, Hirotaka Tsuno, Yusuke Yano, Shinichi Nogi, Yoshihiko Tabira, Hanako Ohmatsu, Shogo Honda, Ayako Horita, Ikuo Saito, Toshihiro Matsui
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引用次数: 0

摘要

手足畸形(Pachydermodactyly)是一种不常见的变异型数字纤维瘤病,主要影响年轻男性,导致近端指间关节两侧纤维肿胀。一般认为这种病是良性的,没有症状,只需定期随访。然而,由于缺乏既定的诊断标准,导致了误诊,从而引发了不必要的药物治疗。在本报告中,我们介绍了一名患有症状性掌趾畸形的 14 岁日本男性,由于出现晨僵,需要与幼年特发性关节炎(JIA)仔细鉴别。尽管患者表现出典型的手足徐动症特征,但其年龄和症状提示类风湿因子阴性的多关节型 JIA。然而,由于缺乏炎症检查结果,因此无法确诊为 JIA。在确认没有葡萄膜炎和骨质破坏进展后,晨僵症状在没有积极治疗的情况下自行缓解。然而,为了美观,患者接受了手术,以缓解持续肿胀。我们的病例凸显了无症状大足畸形的细微差别,文献综述显示无症状和无症状病例之间存在相似之处。这对将无症状作为明确诊断标准的适用性提出了挑战。我们的研究结果有助于不断建立手足徐动症的诊断标准,从而减少误诊和不必要的药物治疗。
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Symptomatic Pachydermodactyly: A Case Report.

Pachydermodactyly, an uncommon variant of digital fibromatosis, predominantly affects young men and results in fibrous swelling on the sides of the proximal interphalangeal joints. It is generally considered benign and asymptomatic, requiring only regular follow-up. Nevertheless, the absence of established diagnostic criteria has led to misdiagnoses, prompting the administration of unnecessary medications. In this report, we present a 14-year-old Japanese male with symptomatic pachydermodactyly, necessitating careful differentiation from juvenile idiopathic arthritis (JIA) due to the presence of morning stiffness. Despite exhibiting typical pachydermodactyly features, the patient's age and symptoms suggested rheumatoid factor-negative polyarticular JIA. However, the lack of inflammatory findings precluded a JIA diagnosis. Following confirmation of the absence of uveitis and progression of bone destruction, the morning stiffness spontaneously resolved without active treatment. However, the patient underwent surgery for aesthetic reasons to alleviate the persistent swelling. Our case highlights the nuances of symptomatic pachydermodactyly, with a literature review revealing similarities between symptomatic and asymptomatic cases. This challenges the suitability of asymptomatic status as a definitive diagnostic criterion. Our findings contribute to the ongoing efforts in establishing diagnostic criteria for pachydermodactyly, aiming to reduce misdiagnoses and unnecessary medications in patients.

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