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Neurofibromatosis Scientific Journals

NF1 is an autosomal dominant disorder, with an almost even split between spontaneous and inherited mutations. Penetrance approaches 100% by age 20; if the patient has the mutation, he or she will exhibit manifestations, although expressivity is highly variable, even among family members with the same mutation5,6. This point is important for genetic counseling, because an individual with mild clinical findings can have a child with a more severe phenotype, or vice versa.

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances within the understanding of the pathophysiology of NF1 are made within the last decade. While no medical therapies are currently available, trials are ongoing to get and test medical treatments for the varied manifestations of NF1, primarily plexiform neurofibromas, learning disabilities, and optic pathway gliomas. Additionally, mutational analysis has become available on a clinical basis and is beneficial for diagnostic confirmation in individuals who don't fulfill diagnostic criteria or when diagnostic procedure is desired. There are several disorders which may share overlapping features with NF1; in 2007, a disorder with cutaneous findings similar to NF1 was described. This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variability of cutaneous and extracutaneous findings in NF1 to which the dermatologist could also be exposed.

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