Myositis ossificans progressive/fibrodysplasia ossificans progressiva (FOP) or stone man disease, is a rare autosomal dominant connective tissue disorder characterized by progressive ectopic ossification of soft tissues. This disorder affects approximately one in two million individuals, with an autosomal dominant inheritance pattern. Most cases, however, occur sporadically within families. FOP manifests as gradual ossification of connective tissues and muscles, presenting with digital anomalies and additional features such as neck muscle edema, C2-C7 facet joint fusion, and enlarged vertebrae. We present the case of a 8-year-old boy with FOP, showcasing distinctive clinical and radiological features. The patient experienced a gradually hardening swelling and progressive limitation of movement along the back over six years. Clinical examination revealed bilateral hallux valgus with short great toes, and radiographic studies confirmed characteristic findings, including elongated ectopic osseous growths in the spine and deformities in the feet.
Diagnostic imaging, including plain radiographs and CT scans, plays a crucial role in confirming FOP and assessing its extent. Characteristic findings such as deformed great toes, ectopic calcifications, and osseous bridging are evident. Early detection through bone scans or MRI is crucial for timely intervention. However, biopsies are discouraged due to the risk of exacerbating ossification and potential confusion with malignancies.
Current therapeutic interventions are primarily supportive, as surgical procedures carry risks of trauma-induced ossification. Preventive measures, including lifestyle modifications and avoiding trauma, are key. Medications like bisphosphonates and corticosteroids may be considered during acute flare-ups, but research for definitive treatment is ongoing.
FOP poses significant challenges in diagnosis, management, and treatment due to its rarity and variable clinical course. Early recognition, thorough clinical assessments, and a proactive approach to prevention are crucial for enhancing the quality of life for individuals with FOP. Ongoing research aims to uncover more effective treatments, while support groups and patient education contribute to a comprehensive approach in addressing this complex disorder.
Key words: Myositis ossificans progressiva, Fibrodysplasia ossificans progressiva, Stone man disease, Autosomal dominant disorder, Ectopic ossification, Connective tissue disorder, Digital anomalies.
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