Volume : 11, Issue : 01, January – 2024
Title:
STONEMAN SYNDROME – A DISORDER CAUSING SECOND SKELETON IN THE BODY
Authors :
Madduluri Shiva Kailash, Narender Boggula*
Abstract :
Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder with a worldwide prevalence of approximately 1 in 2 million population. The age of onset is mostly in the first two decades of life, and there is no ethnic, racial, gender, or geographic predilection of FOP. Stone man syndrome is also known Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder which is characterised by heterotopic ossification of the connective tissue and congenital malformation of the big toes. Currently this disease exists in 67 countries with 834 confirmed cases across the world. The FOP is caused by the mutation in the gene ACVR1 (ALK2). The symptoms of FOP are bone forming on muscles, ligaments, and connective tissue, decreased mobility, difficulty eating or speaking, hearing impairment etc., are the symptoms for the FOP. The diagnosis of the FOP can be done by plain X-rays can reveal abnormal osteogenesis after heterotopic ossification manifests. CT scan can also show lesions with typical heterotrophic ossification. MRI can reveal pre-osseous lesions, which appear as soft tissue swelling and skeletal malformations. There is no single effective treatment option available for fibrodysplasia ossificans progressive. Mast cell inhibitors, NSAIDS, amino bisphosphonates, and COX-2 inhibitors are used for treating later flare-ups. We need to spread knowledge to physicians and patients’ family members about the disease, as well as its features for early diagnosis and how to prevent flare-up of the disease to promote better quality of life in these patients. This includes most recent updates in the definition, epidemiology, signs and symptoms, etiopathogenesis, and treatment of FOP. We need to educate clinicians and patients’ families concerning the disease, as well as its symptoms for early detection and how to prevent flare-ups, in order to improve quality of life.
Key words: Stone man syndrome, fibrodysplasia ossificans progressiva, COX-2 inhibitors.
Cite This Article:
Please cite this article in press Narender Boggula et al., Stoneman Syndrome – A Disorder Causing Second Skeleton In The Body, Indo Am. J. P. Sci, 2024; 11 (01).
Number of Downloads : 10
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