[Neurofibromatosis I: a clinical series and genetic correlations]. / Neurofibromatosi tipo 1. Casistica e correlazioni genetiche.

ABSTRACT

Type 1 neurofibromatosis represents 90% of all forms of neurofibromatosis. It is a disease with an incidence of 13000 neonates with a dominant autosomic form of transmission, but 50% of all cases are sporadic owing to new mutations. Diagnosis is mainly clinical and requires at least of the following signs CAL, neurofibromas, glioma of the optic nerve, axillary lentigo, Lisch's nodules, bone lesions and the presence of the disease in at least one first-degree relation. These criteria may also be applied in children under 6 years old as is confirmed by the clinical series of 5 cases referred to our attention. The deletion of the long arm of chromosome 17 in the zone proximal to the centromere containing the gene of type 1 neurofibromatosis was observed in one case. The phenotype of this subject was correlated to another 5 cases reported in the literature.