Fibrodysplasia ossificans progressiva (FOP), also known as Munchmeyer disease or ‘stone man syndrome’, is a rare, disabling genetic disorder caused by an ACVR1/ALK2 mutation, resulting in progressive heterotopic ossification of muscles, tendons and ligaments. Even minor trauma can trigger flare-ups, causing joint fusion and severe disability. An early adolescent male presented with progressive joint stiffness, painful swellings and malnutrition. Examination revealed hallmark signs of FOP, including malformed great toes and widespread soft tissue ossification. Differential diagnoses such as progressive osseous heteroplasia and juvenile fibromatosis were excluded clinically. A biopsy was avoided due to the risk of disease exacerbation, and the diagnosis was made on clinical grounds. As no definitive cure exists, management was supportive with non-steroidal anti-inflammatory drugs for pain, nutritional supplementation and avoidance of surgery. Awareness and early recognition are crucial, while emerging therapies, such as palovarotene and gene-targeted approaches, hold promise for the future.
Sidana et al. (Thu,) studied this question.