Department of Radiology, London North West University Healthcare NHS Trust, London, UK.
Department of Histopathology, Royal National Orthopaedic Hospital, Stanmore, UK.
Skeletal Radiol. 2021 Oct;50(10):1941-1962. doi: 10.1007/s00256-021-03770-3. Epub 2021 Apr 1.
Solitary osteochondromas are common, benign hyaline cartilage-capped exostoses that primarily arise from the metaphyses of long and flat bones. Diaphyseal aclasis is an autosomal dominant condition resulting from EXT1 or EXT2 gene mutations and is characterized by multifocal osteochondromas. These can result in a wide spectrum of complications, such as skeletal deformity, neurological and vascular complications, adventitial bursa formation, fracture, and rarely malignant transformation to peripheral chondrosarcoma. In this review, we outline in detail the multimodality imaging features of DA and its associated complications.
孤立性骨软骨瘤很常见，是良性透明软骨帽外生骨疣，主要起源于长骨和平骨的干骺端。骨干骺端发育不良是一种常染色体显性遗传病，由 EXT1 或 EXT2 基因突变引起，其特征是多灶性骨软骨瘤。这些可导致广泛的并发症，如骨骼畸形、神经和血管并发症、腱膜下囊形成、骨折，极少数情况下恶变为外周软骨肉瘤。在这篇综述中，我们详细概述了 DA 的多模态影像学特征及其相关并发症。
