The stone man disease: fibrodysplasia ossificans progressiva: imaging revisited

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling connective tissue disorder of unknown aetiology. Its occurrence is usually sporadic but may be an inherited autosomal-dominant condition with wide range of expression. FOP is characterised by congenital malformations of the great toes and abnormal progressive heterotopic ossification of striated muscles, tendons, ligaments, fascia and aponeuroses of the trunk and extremities leading to painful swellings. The ossifications typically appear within the first decade of life, resulting in progressive morbidity and severe disability. So far, there has been no effective treatment or prevention. In the early localised phase of disease it may be misdiagnosed, hence the role of correct diagnosis through imaging is essential. Herein, we report a case of a 10-year-old female who was evaluated radiologically and diagnosed as a case of FOP. The findings of plain radiography are described and the role of CT is highlighted.