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Intrathoracic fibrodysplasia ossificans progressiva
Serdar Özkan1, Ebru Alp2, Funda Demirağ3
1Department of Thoracic Surgery, Ataturk Training and Research Hospital for Chest Disease and Chest Surgery, Kecioren, Ankara, Turkey.
The Thoracic and Cardiovascular Surgeon
|December 1, 2012
Summary
Fibrodysplasia ossificans progressiva, a rare genetic disorder, was identified as an intrathoracic mass for the first time. Surgical excision of this rare intrathoracic mass led to a cure in a sporadic case.
Area of Science:
- Medical Genetics
- Rare Diseases
- Thoracic Surgery
Background:
- Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder characterized by progressive ectopic ossification, typically affecting extra-thoracic sites.
- The etiology of FOP is often linked to inflammation and trauma, leading to frequent diagnostic errors.
- Genetic transmission is possible, yet definitive treatments remain elusive.
Observation:
- This case report details the first instance of FOP presenting as an intrathoracic mass.
- The patient, identified as a sporadic case after familial screening, underwent surgical excision of the mass.
- Post-operative follow-up confirmed a cure for the patient.
Findings:
- The successful excision of the intrathoracic mass resulted in a complete cure for FOP in this patient.
- This represents a novel surgical approach for managing FOP presenting intra-thoracically.
- Familial screening confirmed the sporadic nature of this particular case.
Implications:
- This case highlights the importance of considering rare genetic disorders like FOP in the differential diagnosis of thoracic masses.
- Surgical intervention may be a viable curative option for FOP when presenting as an isolated intrathoracic mass.
- Further research into the management of intrathoracic FOP is warranted.
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