Von Recklinghausen Neurofibromatosis

A large number of the patients diagnosed with neurofibromatosis are women, and the prognosis is poor for the vast majority of the women diagnosed with the disease.

Abstract

Neurofibromatosis is of great importance not only to the thousands of affected patients and their physicians but also to researchers concerned with genetics, melanin synthesis, neural-crest embryology, cell-cell interactions, cancer, and other disciplines. However, only recently has neurofibromatosis been the subject of widespread, systematic studies of its nature and pathogenesis.1 Neurofibromatosis is a relatively common autosomal dominant trait2 with a frequency of about 1 in 3000; it is inexorably progressive, but with markedly variable expressivity. Although its commonness and wide range of expression may provide impetus for study, they are also the bane of any scientific approach to the disease. . . .