Multiple non-ossifying fibromata with extraskeletal anomalies: a new syndrome?

Abstract

Ten patients with multiple non-ossifying fibromata are reported. All had associated extraskeletal congenital anomalies such as cafe-au-lait spots, mental retardation, hypogonadism or cryptorchidism, ocular anomalies or cardiovascular malformations. The radiographic picture and the distribution of the skeletal lesions are characteristic and constant. There are lucent areas in the shaft with a sclerotic margin; these areas narrow the medullary canal or may completely fill it. It is suggested that these features characterise a new malformation syndrome, possibly allied to neurofibromatosis. After skeletal maturation is complete, the skeletal lesions may (like non-ossifying fibromata) regress and undergo spontaneous healing.