
A Case Report on Stoneman Syndrome
Author(s) -
Sakshi Janardhan Patil,
Khushbu Meshram,
Pooja Kasturkar,
Prerana Sakharwade,
Jaya Khandar,
Sheetal Sakharkar
Publication year - 2021
Publication title -
journal of pharmaceutical research international
Language(s) - English
Resource type - Journals
ISSN - 2456-9119
DOI - 10.9734/jpri/2021/v33i60b35070
Subject(s) - fibrodysplasia ossificans progressiva , medicine , heterotopic ossification , ossification , myositis ossificans , presentation (obstetrics) , surgery , disease , pathology
Fibrodysplasia ossificans progressive is a debilitating autosomal dominant disease characterized by postnatal progressive heterotopic which tissue that connects things together ossification and congenital deformities of the big toes. Fibrodysplasia ossificans progressiva affects about one out of every two million newborns born world wide.
Almost ninetypercent of people with fibrodysplasia ossificans progressiva are misdiagnosed and treated wrongly, resulting in ineffective treatments. Approximately 700 cases have been identified so far around the world. Clinical examinations, radiographic evaluations, and ACVR1 gene mutation testing are all considered confirmatory approaches for early illness diagnosis.
Case Presentation: We're reporting on the case of a 45-year-old man who was admittedt in our facility.
He had clinical and radiological evidence of fibrodysplasia ossificans progressing, as well as multiple painful lumps on his back due to hard masses and rigidity of his shoulders, neck, and left hip.His left hip ossification was surgically removed, but he experienced an increased ossification reaction and early impairment as a result.
Conclusion: Fibrodysplasia ossificans progressive is an uncommon and severe illness that, if misdiagnosed, can result in inappropriate surgical intervention and early paralysis with disastrous consequences.
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.