title: 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.
authors: Department of Radiodiagnosis, CSMMU, Lucknow, Uttar Pradesh, India.
authors: Amit Kumar
authors: AK
authors: Verma
authors: Pallavi
authors: P
authors: Aga
authors: Shailesh Kumar
authors: SK
authors: Singh
authors: Ragini
authors: R
authors: Singh
mesh_terms: D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D002648:Child; D042241:Early Diagnosis; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D034381:Hearing Loss / Q000000981:diagnostic imaging* / Q000503:physiopathology; D006801:Humans; D061330:Multidetector Computed Tomography; D009221:Myositis Ossificans / Q000000981:diagnostic imaging* / Q000503:physiopathology; D012600:Scoliosis / Q000000981:diagnostic imaging* / Q000503:physiopathology; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000503:physiopathology
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D005938:Glucocorticoids