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Fibro Dysplasia Ossificans Progressiva.

Waqas Ahmed¹, Aqeel Safdar¹, Iftikhar Ahmed¹

¹Department of Surgery, Military Hospital Rawalpindi, National University of Medical Sciences Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC

|March 15, 2019

Summary

This case study details a rare genetic disorder, Fibrodysplasia Ossificans Progressiva (FOP), in a child. Early trauma avoidance and prophylactic measures are crucial for managing this debilitating condition.

Keywords:

Fibro dysplasia ossificans progressive Heterotopic ossification; Hallux valgus

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Area of Science:

Medical Genetics
Orthopedics
Rare Diseases

Background:

Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare autosomal dominant disorder.
Characterized by progressive heterotopic ossification, FOP affects 1 in 2 million individuals.
This condition involves bone formation in soft tissues like muscles and ligaments, often triggered by trauma.

Observation:

A 7-year-old boy presented with congenital anomalies: bilateral short hallux valgus and aplasia of distal phalanges of both thumbs.
Progressive ossification was observed, including bony swellings on the scalp, limited neck mobility, and nodules on the thoracic cage.
Heterotopic bone formation was also evident in both tibias.

Findings:

The patient exhibited classic manifestations of Fibrodysplasia Ossificans Progressiva.
The disease progression was linked to trauma, highlighting a critical trigger for ossification exacerbations.
The case underscores the rarity of FOP, with only two prior reports in the region.

Implications:

Early diagnosis and intervention are vital for managing FOP.
Prophylactic measures, including trauma avoidance and careful surgical planning, can mitigate disease progression.
Patient and family counseling is essential to prevent iatrogenic injury and reduce acute exacerbations.