Extract
Von Recklinghausen disease, or neurofibromatosis, is a congenital
and familial disorder with an autosomal dominant pattern of inheritance. The
disease primarily affects ectodermal tissues arising from the neural crest. It
is divided into two basic forms: peripheral (type 1) and central (type 2),
characterized by distinct skeletal and soft-tissue
manifestations1-6.Type-1 neurofibromatosis usually manifests in early childhood and is more
frequent than the type-2 form of the
disease7,8.
Skeletal abnormalities and dysplasias, including erosive or pressure bone
defects, pseudarthroses, and cranial defects, are diagnosed in approximately
80% of patients with type-1 neurofibromatosis. In addition, multiple
nonossifying fibromas that predominantly affect the metaphyseal parts of the
long tubular bones tend to develop in patients with this type of the
disease1.