Update on the Imaging Features of the Enchondromatosis Syndromes

Overview

Journal Skeletal Radiol

Specialties Orthopedics
Radiology

Date 2021 Jul 24

PMID 34302201

Citations 3

Authors

Ban Sharif

Daniel Lindsay

Asif Saifuddin

Affiliations

Soon will be listed here.

Abstract

Ollier disease and Maffucci syndrome are the commonest enchondromatosis subtypes, arising from non-hereditary mutations in the IDH1 and IDH2 genes, presenting in childhood and being characterised by multiple enchondromas. Maffucci syndrome also includes multiple soft tissue haemangiomas. Aside from developing bony masses, osseous deformity and pathological fracture, ~ 40% of these patients develop secondary central chondrosarcoma, and there is increased risk of non-skeletal malignancies such as gliomas and mesenchymal ovarian tumours. In this review, we outline the molecular genetics, pathology and multimodality imaging features of solitary enchondroma, Ollier disease and Maffucci syndrome, along with their associated skeletal complications, in particular secondary chondrosarcoma. Given the lifelong risk of malignancy, imaging follow-up will also be explored. Metachondromatosis, a rare enchondromatosis subtype characterised by enchondromas and exostoses, will also be briefly outlined.

Citing Articles

Hereditary multiple exostoses: an educational review.

Rueda-de-Eusebio A, Gomez-Pena S, Moreno-Casado M, Marquina G, Arrazola J, Crespo-Rodriguez A Insights Imaging. 2025; 16(1):46.

PMID: 39982564 PMC: 11845651. DOI: 10.1186/s13244-025-01899-6.

Imaging Aspects of Enchondromas in Pediatric Patients.

Bailescu I, Popescu M, Dumitrescu D, Mindrila I, Visan O, Moraru M Curr Health Sci J. 2024; 49(3):457-466.

PMID: 38314207 PMC: 10832875. DOI: 10.12865/CHSJ.49.03.21.

A rare presentation of Maffucci syndrome: A case report and literature review.

Wang Y, Di W, Qin S, Yang S, Wang Z, Xu Y Exp Ther Med. 2023; 26(3):435.

PMID: 37602309 PMC: 10433447. DOI: 10.3892/etm.2023.12134.

A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report.

Ashirov N, Mammadinova I, Moldabekov A, Zhetpisbaev B, Teltayev D, Ryskeldiyev N Medicina (Kaunas). 2023; 59(6).

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