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Fibrodysplasia ossificans progressiva in a Malian boy of Bamako
Moussa Traore1, Jeannette Traore Thomas, Cheick Oumar Guinto
1Pharmacy and Dentistry, Faculty of Medicine, BP 1805 Bamako, Mali, West Africa. mtraore@mrtcbko.org
Abstract:
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare hereditary connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of striated muscles and soft tissues. We report a case of FOP in a Malian boy and review the clinical and radiographic manifestations of this disorder. The body TDM showed ossifications and calcifications in the muscles of the large rhomboid, the erector muscles of the rachis and the trapezius muscles. Radiography of the dorsolumbar rachis showed paravertebral soft tissue calcification adjacent to intact lumbar vertebrae. The diagnosis is based on clinical and radiological findings and demonstration of skeletal malformations. The differential diagnosis of this rare condition from other muscle and joint disease is discussed. There is no effective prevention or treatment. There is a need for a wider knowledge of this condition.
Insights
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing bone to form in muscles and connective tissues. This case highlights the clinical and radiographic features of FOP, emphasizing the need for greater awareness.
Area of Science:
- Medical Genetics
- Rheumatology
- Radiology
Background:
- Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder.
- Characterized by congenital great toe malformation and progressive heterotopic ossification.
- Affects striated muscles and soft tissues, leading to severe disability.
Observation:
- Presents a case study of FOP in a Malian boy.
- Details clinical and radiographic manifestations.
- Computed tomography (CT) scans revealed ossifications in rhomboid, erector spinae, and trapezius muscles.
Findings:
- Radiography showed paravertebral soft tissue calcification in the dorsolumbar spine.
- Diagnosis confirmed by clinical presentation, radiological evidence, and skeletal malformations.
- Differential diagnosis from other myopathies and joint diseases was discussed.
Implications:
- Highlights the diagnostic challenges of rare connective tissue disorders.
- Emphasizes the need for increased global awareness of FOP.
- Underscores the lack of effective treatments and preventive strategies for FOP.
