Maffucci syndrome belongs to a group of disorders known as enchondromatoses. First described in 1881, it features multiple enchondromas and vascular abnormalities, mainly haemangiomas. The syndrome is a variant of Ollier's disease, which consists solely of multiple enchondromas. This case serves to highlight important features of a rare condition.
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How do lesions affect limb lengthening in children with Ollier's disease?
BMC Musculoskelet Disord
January 2025
Department of Pediatric Orthopaedics, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Rd, Minhang District, Shanghai, 201102, China.
Purpose: Ollier's disease (multiple enchondromatosis) can cause severe lower limb length discrepancy and deformity in children. Osteotomy and limb lengthening with external fixation can correct the lower extremity deformity. There may be lesions in the osteotomy part (OP), and the internal fixation part of the external fixation(FP).
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National Cancer Institute, Bethesda, MD, United States.
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Orphanet J Rare Dis
November 2024
Sorbonne Université, Inserm, CNRS, UMR S 1127, Institut du Cerveau, ICM, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Service de Neuro-oncologie, Paris, France.
Article Synopsis
- The study aims to enhance understanding of tumor development in patients with Ollier disease (OD) and Maffucci syndrome (MS), focusing on IDH-mutated tumors and their origins.
- It proposes that a single IDH-mutant cell could lead to various tumors due to early embryonic mutations and that not all mutated cells will display the IDH mutant characteristics.
- Additionally, it suggests that specific genetic predispositions (SNPs) may increase the likelihood of developing particular tumors in these patients, linking developmental defects to tumor occurrence.
Single cell analysis of Idh mutant growth plates identifies cell populations responsible for longitudinal bone growth and enchondroma formation.
Sci Rep
October 2024
Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC, USA.
Enchondromas are a common tumor in bone that can occur as multiple lesions in enchondromatosis, which is associated with deformity of the affected bone. These lesions harbor somatic mutations in IDH and driving expression of a mutant Idh1 in Col2 expressing cells in mice causes an enchondromatosis phenotype. Here we compared growth plates from E18.
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