Café-au-lait patches and senile plaques: How APPt the connection?

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 β-amyloid precursor protein (APP) and neurofibromin, and their localization to the melanosome, may help explain the development of café-au-lait patches.