ArticleAmerican journal of medical genetics. Part A2020
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 88 citations in OpenAlex.
- Chronic pain and fatigue in multiple osteochondroma and Ollier disease, a systematic review.BMC musculoskeletal disorders · 2026Pooled it
- Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Interdisciplinary management and genetic evaluation of pediatric cancer predisposition syndromes: a retrospective cohort study.European journal of human genetics : EJHG · 2026Article
- Severe Deforming Ollier Disease with a Giant Proximal Humeral Benign Chondroid Lesion in an Adolescent Male: Case Report.Journal of orthopaedic case reports · 2026Article
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Defining the Vascular Anomalies in Maffucci Syndrome: A Systematic Review.Plastic and reconstructive surgery. Global open · 2026Article
- A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coincidence or expanding the spectrum of Ollier disease?JBMR plus · 2026Article
- Seizure Presentation of a Grade II Astrocytoma in a Patient With Ollier's Disease: A Case Report and Brief Review.Cureus · 2026Article
- Enchondromatosis of Both Hands With Possible Skull Bone Involvement: An Extremely Rare Condition in Adults.Cureus · 2025Review
- Pituitary Complications of Enchondromas Due to Maffucci Syndrome.JCEM case reports · 2025Article
- Genetic predisposition in sarcomas: clinical implications and management.EClinicalMedicine · 2025Review
- Review
- A Rare Case of Low-Grade Bilateral Proximal Humerus Chondrosarcomas Managed With Staged Curettage and Cementation.Cureus · 2025Article
- Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- Deformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report.Journal of orthopaedic case reports · 2025Article
- IDH1/2 Mutations in Cancer: Unifying Insights and Unlocking Therapeutic Potential for Chondrosarcoma.Targeted oncology · 2025Review
- IDH mutant high-grade gliomas.Frontiers in molecular neuroscience · 2025Review
- Management of ovarian granulosa cell tumor in childhood: a case report and recommendations for a multidisciplinary approach.Frontiers in oncology · 2025Review
- Blue rubber blister nevus syndrome: A case report.World journal of gastrointestinal surgery · 2024Article
- Spectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is characterized by multiple enchondromas, typically unilateral in distribution with a predilection for the appendicular skeleton. MS is characterized by multiple enchondromas bilaterally distributed in most of the cases. Both disorders feature multiple swellings on the extremity, deformity around the joints, limitations in joint mobility, scoliosis, bone shortening, leg-length discrepancy, gait disturbances, pain, loss of function, and pathological fractures. About 50% of patients with OD or MS develop a malignancy, such as chondrosarcoma, glioma, and ovarian juvenile granulosa cell tumor. To better understand the natural history of OD and MS, we reviewed 287 papers describing patients with OD and MS. We also created a survey that was distributed directly to 162 patients through Facebook. Here, we compare the review of the cases described in the literature to the survey's responses. The review of the literature showed that: the patients with OD are diagnosed at a younger age; the prevalence of chondrosarcomas among patients with OD or MS was ~30%; in four patients, vascular anomalies were identified in internal organs only; and, the prevalence of cancer among patients with OD or MS was ~50%. With these data, health care providers will better understand the natural history, severity, and prognosis of these diseases and the prevalence of malignancies in these patients. Here, we recommend new guidelines for the care of patients with OD and MS.
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