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贝塞尔-哈根病:一种罕见疾病的病例报告

Bessel-Hagen Disease: A Case Report of a Rare Disease.

作者信息

Ammor Fz, Gourti Mouad, Lefqih Imane, Maidi Elmehdi

机构信息

Thoracic Surgery, Centre Hospitalo-Universitaire (CHU) Souss Massa, Medical University of Agadir, Agadir, MAR.

出版信息

Cureus. 2025 Aug 8;17(8):e89651. doi: 10.7759/cureus.89651. eCollection 2025 Aug.

Abstract

Bessel-Hagen disease, also known as hereditary multiple exostoses, is a rare genetic disorder characterized by the development of multiple benign bony outgrowths (osteochondromas), most commonly at the metaphyses of long bones. Although it typically presents in childhood, the clinical manifestations can vary greatly, ranging from asymptomatic masses to significant skeletal deformities. In this case report, we describe a young adult male with a family history of exostoses who presented with a painless, visible mass on his anterolateral chest wall, along with a similar lesion on the anterior tibia. Radiological evaluation confirmed multiple osteochondromas, without signs of malignancy or inflammation. Given the location and progressive nature of the chest lesion, surgical resection was performed for both functional and cosmetic reasons. The postoperative course was uneventful, and follow-up showed no recurrence. This case highlights the importance of individualized management in Bessel-Hagen disease, where surgical intervention may be beneficial even in the absence of pain or complications.

摘要

贝塞尔 - 哈根病,又称遗传性多发性骨软骨瘤病,是一种罕见的遗传性疾病,其特征是出现多个良性骨赘(骨软骨瘤),最常见于长骨的干骺端。虽然它通常在儿童期出现,但临床表现差异很大,从无症状肿块到严重的骨骼畸形不等。在本病例报告中,我们描述了一名有骨软骨瘤家族史的年轻成年男性,他的前胸壁出现了一个无痛的可见肿块,同时胫骨前部也有类似病变。影像学评估证实有多个骨软骨瘤,无恶性或炎症迹象。鉴于胸部病变的位置和进展性质,出于功能和美观原因进行了手术切除。术后过程顺利,随访未发现复发。本病例强调了贝塞尔 - 哈根病个体化管理的重要性,即使在没有疼痛或并发症的情况下,手术干预也可能有益。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec29/12334325/ced55f6fbad1/cureus-0017-00000089651-i01.jpg

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