enchondromatosis

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enchondromatosis

[‚en‚kän·drō·mə′tō·səs]
(medicine)
A rare disorder principally involving tubular bones, especially those of the feet and hands, characterized by hamartomatous proliferation of cartilage in the metaphysis, indistinguishable in single lesions from enchondromas. Also known as chondrodysplasia; dyschondroplasia; Ollier's disease.
References in periodicals archive ?
6) Schwartz and coworkers (8) did a retrospective study on 44 patients with enchondromatosis, 7 had Maffucci syndrome while 37 had Ollier disease.
Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
Generalized enchondromatosis, of which Ollier disease is the most common type, is a rare bone dysplasia characterized by multiple intraosseous tumors near growth-plate cartilage.
The most common type of enchondromatosis is Ollier disease, a disorder characterized by multiple enchondromas arising in tubular and flat bones and sparing the skull and spine.