Serum biomarker in neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) (OMIM #162200) is an autosomal dominant disorder characterized by café-au-lait spots and neurofibromas [1]. It has been shown that interaction between NF1−/− Schwann cells and NF1+/− mast cells plays an important role in the development of neurofibromas [2]. Although the pathogenesis of café-au-lait spots has not been fully elucidated, dermal fibroblasts would affect melanocytes by producing soluble stem cell factor and hepatocyte growth factor [3]. Loss of NF1 also causes the abnormality of melanocyte function in NF1 [4].