AI Article Synopsis

  • Ollier's disease is a rare, non-inherited bone disorder characterized by multiple benign tumors (enchondromas) that commonly affect the metaphysis of long bones, often leading to deformities and fractures.
  • Two case studies highlight a 13-year-old girl and an 8-year-old boy, both displaying various physical symptoms and radiographic evidence of enchondromas in their extremities, despite the girl having more extensive deformities.
  • Diagnosis typically relies on observing clinical signs and specific radiographic patterns, with treatment usually unnecessary unless complications arise, highlighting the importance of recognizing these features to avoid unnecessary imaging.

Article Abstract

Background: Ollier's disease is a non-hereditary, benign bone tumor which is usually characterized by presence of multiple radiolucent lesions (enchondromas) in the metaphysis of long bones with unilateral predominance. The disease is a rare clinical entity with 1/100000 occurrence in early childhood. Patients mostly present with multiple hard swellings and deformity of the tubular bones specially hands and feet with leg discrepancy and pathologic fractures.

Case Presentation: We present two cases of Ollier's disease in a 13 years old female and 8 years old boy which had no specific symptoms. The girl had multiple hard swellings and deformity in the fingers of both hands and left toes with left leg deformity and discrepancy. Her plain radiographs demonstrated multiple expansile enchondromas in the phalanges of hands, left toes and metaphyses of upper humeri as well as left leg bones. The enchondromas were also noted in the left iliac bone and anterior end of ribs. The boy had bowing deformity and shortage of left leg with multiple enchondromas in the metaphyses of left femur, left tibia and fibula as well as left iliac bone in his radiographic images.

Conclusion: Ollier's disease is usually diagnosed by clinical signs and typical location of enchondromas across skeleton in conventional radiography. It usually does not need specific treatment. Well understanding of the clinical manifestation and radiographic features can prevent unnecessary application of other imaging modalities; while other diagnostic imaging modalities like MRI, ultrasound and scintigraphy can be used in complicated and painful conditions.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5712181PMC
http://dx.doi.org/10.1186/s12880-017-0230-8DOI Listing

Publication Analysis

Top Keywords

ollier's disease
16
left leg
12
left
9
radiographic features
8
multiple hard
8
hard swellings
8
swellings deformity
8
hands left
8
left toes
8
well left
8

Similar Publications

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 PDF

Enchondroma Protuberans of the Hand: A Rare Cartilaginous Tumor.

J Orthop Case Rep

December 2024

Department of Orthopaedics, ACS Medical College and Hospital, Dr MGR Educational and Research Institute, Chennai, Tamil Nadu, India.

Introduction: Enchondroma protuberans (EP), a rare form of enchondroma with exophytic growth, differs radiographically from classical enchondromas and can mimic osteochondroma, periosteal chondroma, or chondrosarcoma. Proper differentiation is crucial to avoid unnecessary radical resection, as EP requires intralesional curettage rather than the surgical removal typical for osteochondromas.

Case Report: A 14-year-old male presented with a progressively enlarging, painless mass on the lateral aspect of his left hand, initially noticed 4 years ago.

View Article and Find Full Text PDF

Spectrum 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.
View Article and Find Full Text PDF

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 PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!