Enchondromatosis

A condition characterized by multiple enchondromas — benign masses of cartilage growing within bones. The enchondromas can deform and shorten a limb and predispose to a fracture. The condition can be caused by a mutation in the gene for the parathyroid hormone receptor (PTHR1). Also known as Ollier disease.

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A rare disorder characterized by hamartomatous proliferation of cartilage in the metaphyses of several bones, most commonly of the hands and feet, causing distorted growth in length and pathological fractures; chondrosarcoma may develop. When e. is associated with hemangiomas in the cutaneous or visceral regions, the condition is called Maffucci syndrome. Most cases are sporadic but a few instances demonstrate autosomal dominant inheritance with reduced penetrance. SYN: asymmetric chondrodystrophy, dyschondroplasia, hereditary deforming chondrodystrophy (2), Ollier disease.

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en·chon·dro·ma·to·sis (en-kon″dro-mə-toґsis) a condition characterized by hamartomatous proliferation of cartilage cells within the metaphysis of several bones, causing thinning of the overlying cortex and distortion of the growth in length; it may undergo malignant transformation, particularly to chondrosarcoma. Called also multiple or skeletal e. and Ollier disease. See also Maffucci syndrome.