Neurocutaneous syndromes

Abstract

The neurofibromatoses (NFs) encompass several disorders that have as common features both cutaneous pigmented lesions and tumors of neuroectodermal origin. Among this group, NF I and NF II are most common. NF I (also known as peripheral NF or von Recklinghausen's disease) accounts for up to 96% of all NF cases [51]. It constitutes one of the most common inherited neurologic disorders, affecting both sexes and all racial groups equally, with an annual incidence ranging from 1/2,500 to 1/4,000 live births [43]. Its pattern of inheritance is autosomal dominant, with high penetrance and variable expression. Despite this, only half the cases present with a discernible family history - the other half result from new gene mutations. The NF1 tumor suppressor gene has been identified and is located on chromosome 17q11.2. It encodes a large, ubiquitous cytoplasmic protein - neurofibromin - which functions in part to decrease cell proliferation by promoting the inactivation of the p21-ras proto-oncogene [114]. © 2010 Springer-Verlag Berlin Heidelberg.