Role of radiotherapy in management of Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder with widespread extraskeletal bone formation. This disease usually begins with typical ossification pattern in early childhood, causing increasing disability and making patients totally disabled by the age of 30 years. Ectopic ossification can be triggered by any trauma as small as intramuscular injections, with no effective cure. Radiotherapy can be helpful in impeding ossification, although this treatment is not yet supported by strict evidence. Here in, we present a clinically diagnosed case of Fibrodysplasia Ossificans Progressiva managed with radiotherapy for symptomatic relief. This case indicates that radiotherapy can be useful in these patients.

[1]  J. Murgić,et al.  Radiation therapy in treatment of fibrodysplasia ossificans progressiva: a case report and review of the literature. , 2011, Collegium antropologicum.

[2]  S. Mundlos,et al.  Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR 1 , 2011 .

[3]  F. Kaplan,et al.  THE MEDICAL MANAGEMENT OF FIBRODYSPLASIA OSSIFICANS PROGRESSIVA: CURRENT TREATMENT CONSIDERATIONS , 2011 .

[4]  F. Kaplan,et al.  Fibrodysplasia ossificans progressiva , 2008, Best practice & research. Clinical rheumatology.

[5]  J. Kira,et al.  A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H) , 2008, American journal of medical genetics. Part A.

[6]  R. Pignolo,et al.  Morphogen receptor genes and metamorphogenes: skeleton keys to metamorphosis. , 2007, Annals of the New York Academy of Sciences.

[7]  H. Mamon,et al.  Heterotopic ossification: Pathophysiology, clinical features, and the role of radiotherapy for prophylaxis. , 2006, International journal of radiation oncology, biology, physics.

[8]  In Ho Choi,et al.  A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva , 2006, Nature Genetics.

[9]  P. Papagelopoulos,et al.  Optimal treatment of fibrodysplasia ossificans progressiva with surgical excision of heterotopic bone, indomethacin, and irradiation. , 2006, Journal of surgical orthopaedic advances.

[10]  David M. Rocke,et al.  Iatrogenic Harm Caused by Diagnostic Errors in Fibrodysplasia Ossificans Progressiva , 2005, Pediatrics.

[11]  Kaplan,et al.  Fibrodysplasia ossificans progressiva: a hereditary illness of multidisciplinary interest , 2004 .

[12]  M. Urbanek,et al.  Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. , 2000, American journal of human genetics.

[13]  A. Lash,et al.  Conductive hearing loss in individuals with fibrodysplasia ossificans progressiva. , 1999, American journal of audiology.

[14]  R. Smith,et al.  Fibrodysplasia (myositis) ossificans progressiva. Clinical lessons from a rare disease. , 1998, Clinical orthopaedics and related research.

[15]  N. Athanasou,et al.  Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history. , 1996, QJM : monthly journal of the Association of Physicians.

[16]  M. Zasloff,et al.  The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. , 1993, The Journal of bone and joint surgery. American volume.