Miosite ossificante progressiva. Stone man.

Abstract

Myositis ossificans progressiva (MOP) is a rare hereditary connective tissue disease, genetically inherited as an autossomal dominant trait with complete penetrance but variable expression. The onset usually takes place during childhood and progressive involvement of the spinal cord and proximal extremities leads to immobilization and articular dysfunction. We present a case of a 29-year-old woman with the typical features of MOP and review the pathogenesis, clinical manifestations and treatment options of this rare disease.