¹Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA

Correspondence: Thomas J. Hornyak, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 10 Center Drive, Building 10/12N242, Bethesda, Maryland 20814, USA. Email: hornyakt@mail.nih.gov

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disease caused by mutations in the NF1 gene, which encodes the protein neurofibromin. Patients exhibit characteristic hyperpigmented patches called café-au-lait patches. Melanocytes of NF1 patients differ from normal human melanocytes, but no differences account completely for lesional hyperpigmentation. An association between -amyloid precursor protein (APP) and neurofibromin, and their localization to the melanosome, may help explain the development of café-au-lait patches.