Neurofibromatosis1 and fibrous dysplasia2 were both originally described by von Recklinghausen. Some authors believe these two disorders may be genetically related.3-5ers consider them separate, unrelated entities.6-12 The issue has yet to be resolved.
Jaffe has argued against a relationship of the two conditions. In addition to other reasons, he stated: "No one has noted among the antecedents and siblings of patients with fibrous dysplasia any special prevalence of typical neurofibromatosis. Such a prevalence would have helped to interrelate the two disorders on a genetic basis."9 The present study describes a unique family in which there are several individuals with neurofibromatosis and one child with fibrous dysplasia of the skull. Reports in the literature also describe similar osseous lesions, endocrinopathies, and café-au-lait spots in both syndromes. A regulator gene mutation is postulated as possibly responsible for this unusual presentation.
Description of Family
Rosenberg RN, Sassin J, Zimmerman EA, Carter S. The Interrelationship of Neurofibromatosis and Fibrous Dysplasia. Arch Neurol. 1967;17(2):174–179. doi:10.1001/archneur.1967.00470260064007
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