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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).
View Article and Find Full Text PDFBlue rubber blister nevus syndrome: A case report.
World J Gastrointest Surg
November 2024
Department of Critical Care Medicine, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou 450003, Henan Province, China.
Background: Blue rubber blister nevus syndrome (BRBNS) is a congenital, rare disease characterized by venous malformations of the skin and internal organs, affecting all systems throughout the body. The pathogenesis is unknown. There is no consensus on the treatment of BRBNS.
View Article and Find Full Text PDFSpectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory.
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.
View Article and Find Full Text PDFTherapeutic effect of intramedullary reaming and nailing for long bones lengthening in children with Ollier disease and Maffucci syndrome on enchondromas: multicentric retrospective case series.
SICOT J
October 2024
Service de Chirurgie Pédiatrique, CHU Rennes, Hôpital Sud, 16 Boulevard de Bulgarie, 35200 Rennes, France.
Introduction: Leg length discrepancy (LLD) and malalignment of long bones are frequent orthopedic problems encountered in Maffucci syndrome and Ollier disease (OD). Orthopedic surgeons used historically external fixators to address the deformities. In this multicentric case series, we propose the use of motorized intramedullary nails.
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