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

American Journal of Medical Genetics. Part a
Jad M El AbiadNara L de Macena Sobreira

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...Continue Reading

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Citations

Dec 8, 2020·Frontiers in Pediatrics·Giulia CeglieAndrea Carai
Jan 13, 2021·American Journal of Medical Genetics. Part a·Manuel DieziRaffaele Renella
Aug 8, 2020·Medical Hypotheses·Nigora Z NazarovaMichael Shterenshis
Mar 5, 2021·BMJ Case Reports·Gopalkrishna G VermaKarthikeyan P Iyengar
May 11, 2021·The Spine Journal : Official Journal of the North American Spine Society·Zach PenningtonDaniel M Sciubba
Jun 3, 2021·Cancers·Agnieszka E ZającPiotr Rutkowski
Jul 21, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Emily G MillerMeghan C Halley
Jul 25, 2021·Skeletal Radiology·Ban SharifAsif Saifuddin
Apr 5, 2021·Gastroenterology·Rajalakshmi GovalanJu Dong Yang
Aug 26, 2021·Current Opinion in Oncology·Marco BruschiLéa Guerrini-Rousseau

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