Cutaneous findings in neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is characterized by major and minor cutaneous findings, whose recognition plays a key role in the early diagnosis of the disease. The disease affects multiple systems and clinical manifestation has a wide range of variability. Symptoms and clinical signs may occur over the lifetime, and the complications are very diverse. Although significant progress has been made in understanding the pathophysiology of the disease, no specific treatment has been defined. Multidisciplinary approach is required to provide optimum care for the patients. The aim of this paper is to provide the clinician with a complete guide of skin findings of NF1. Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway. Generally, NF1 patients present with dermatologic manifestations. In this review the main features of café-au-lait macules, freckling, neurofibromas, juvenile xanthogranuloma, nevus anemicus and other cutaneous findings will be discussed.