[Fibrodysplasia ossificans progressiva. A case report]

Area of Science:

• Medical Genetics
• Orthopedics
• Rare Diseases

Background:

• Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder characterized by progressive heterotopic ossification of connective tissues.
• It leads to the gradual replacement of muscle and connective tissue with bone, causing severe disability.

Observation:

• A 10-year-old female presented with congenital toe deformities, progressive neck stiffness, and swelling in the right scapular region.
• Biopsy of the affected area revealed induration and calcification.
• Current observations include cervical spine stiffness and multiple heterotopic bone masses in various locations.

Findings:

• Molecular analysis confirmed the presence of the p.Arg206His mutation in the ACVR1 gene, a common mutation associated with FOP.
• The patient exhibited classic clinical and radiological features of FOP.

Implications:

• Increased awareness and understanding of FOP among healthcare professionals are crucial for timely diagnosis and appropriate patient management.
• This case report adds to the literature, reinforcing the diagnostic criteria and highlighting the genetic basis of FOP.
• Early and accurate diagnosis can prevent misdiagnosis and potentially harmful interventions.