Neurofibromatosis Type 1 Revisited

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical features of neurofibromatosis type 1. Moreover, improved understanding of how the neurofibromatosis type 1 protein, neurofibromin, regulates cell growth recently provided insight into the pathogenesis of the disease and has led to the development of new therapies. In this review, we describe the clinical manifestations, recent molecular and genetic findings, and current and developing therapies for managing clinical problems associated with neurofibromatosis type 1.

Association between atypical parathyroid adenoma and neurofibromatosis

“…Diagnosis is bases on the presence of two or more of the following findings: Six or more café au lait spots larger than 5 mm in diameter in pre-pubescent patients, or larger than 15mm in post-pubescent patients; two or more neurofibromas of any kind, or one plexiform neurofibroma; axillary or inguinal ephelides; optic glioma; two or more Lisch nodules in the iris; distinct bone lesions such as sphenoid dysplasia, or long bones with or without pseudarthrosis; first degree relative with neurofibromatosis (10).…”

PTEN dosage is essential for neurofibroma development and malignant transformation

“…An autosomal dominant disorder, NF1 is clinically characterized by peripheral neurofibromas (NF), café-au-lait spots, axillary freckling, optic nerve gliomas, and hamartomas of the iris. NFs are benign peripheral nerve sheath tumors that develop as cutaneous or s.c. masses, deep soft tissue lesions, plexiform NFs, or intraneural tumors (1)(2)(3)(4).…”

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

“…Hallmarks of the syndrome include café-au-lait spots and benign nerve tumors known as neurofibromas. Additional physical symptoms include freckling of the groin and/or underarm, Lisch nodules of the iris, optic pathway gliomas, and bone lesions [62]. Approximately 80% of individuals with NF1 exhibit deficits in cognitive functioning [63].…”