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August 1967

The Interrelationship of Neurofibromatosis and Fibrous Dysplasia

Author Affiliations

New York
From the Neurological Clinical Research Center, Neurological Institute, and the Pediatric Neurology Division, Babies Hospital, Columbia-Presbyterian Medical Center, and the Department of Neurology, College of Physicians and Surgeons, Columbia University, New York.

Arch Neurol. 1967;17(2):174-179. doi:10.1001/archneur.1967.00470260064007

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  Propositus

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