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Fibrodysplasia Ossificans Progressiva: A Case Report
Sudeep Acharya1, Sandhya Joshi2, Rajib Chaulagain3
1Department of Oral and Maxillofacial Surgery, KIST Medical College and Teaching Hospital, Imadole, Lalitpur, Nepal.
Fibrodysplasia ossificans progressiva is a rare genetic disorder causing bone to form in muscles and connective tissues. This case study presents a 27-year-old male with this debilitating condition, highlighting the need for effective treatments.
Area of Science:
- Genetics
- Connective Tissue Disorders
- Orthopedics
Background:
- Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder.
- Characterized by congenital malformation of the big toes.
- Leads to progressive heterotopic ossification in soft tissues.
Observation:
- The case involves a 27-year-old male.
- Patient presented with clinical and radiological features of FOP.
- The condition causes progressive stiffness and permanent disability.
Findings:
- Heterotopic ossification in tendons, ligaments, fascia, and skeletal muscles.
- Progressive joint stiffness limiting mobility.
- No effective treatment currently exists for FOP.
Implications:
- Highlights the severe impact of FOP on quality of life.
- Emphasizes the urgent need for therapeutic interventions.
- Contributes to understanding the clinical progression of FOP.
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