Metachondromatosis

Last revised by Dr Jeremy Jones on 20 Dec 2017

Metachondromatosis refers to the rare combination of:

In contrast to enchondromatosis alone, metachondromatosis carries an autosomal dominant inheritance. 

Characterized by the presence of both enchondromas and osteochondromas. The enchondromas can have a peculiar streak-like appearance 2.

With this condition, the cartilaginous lesions rarely undergo malignant transformation and spontaneous regression is usually expected. In asymptomatic and uncomplicated cases, no treatment is usually required.

First described by P Marotaeux et al. in 1971 2,3.

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