Multiple non-ossifying fibromatosis

Multiple non-ossifying fibromatosis, also known as multiple non-ossifying fibromas or Jaffe-Campanacci syndrome, is a rare skeletal disorder characterized by the presence of multiple non-ossifying fibromas (fibrous cortical defects) in the long bones. Non-ossifying fibromas are benign fibrous lesions that occur in the metaphyseal regions of bones, most commonly in the lower extremities (femur and tibia), though they can also affect the upper extremities. While solitary non-ossifying fibromas are relatively common incidental findings in children and adolescents, the occurrence of multiple lesions is rare and may be associated with extraskeletal manifestations. In Jaffe-Campanacci syndrome, multiple non-ossifying fibromas are accompanied by café-au-lait skin spots, intellectual disability in some cases, hypogonadism or cryptorchidism, ocular anomalies, and cardiovascular malformations. The skeletal lesions may weaken the bone cortex, predisposing affected individuals to pathological fractures. The condition typically presents during childhood or adolescence when the lesions are discovered incidentally on radiographs or following a pathological fracture. Treatment is primarily symptomatic and supportive. Small, asymptomatic non-ossifying fibromas generally require only observation, as many resolve spontaneously with skeletal maturation. Larger lesions that cause pain, threaten structural integrity, or result in pathological fractures may require surgical curettage and bone grafting. Regular orthopedic monitoring is recommended to assess lesion progression. The extraskeletal features, when present, are managed by appropriate specialists. The relationship between this condition and neurofibromatosis type 1 (NF1) has been debated, as some patients with multiple non-ossifying fibromas and café-au-lait spots may ultimately meet diagnostic criteria for NF1.

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