Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

Jad M. El Abiad, Sarah M. Robbins, Bernard Cohen, Adam S. Levin, David L. Valle, Carol D. Morris, Nara L. de Macena Sobreira

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1093-1103
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
StatePublished - May 1 2020


  • Maffucci syndrome
  • Ollier disease
  • enchondroma
  • malignancy
  • natural history
  • vascular anomaly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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