An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer

Abstract

Listen

Translate article

In addition to the classic skin manifestations of NF1 (café-au-lait spots, freckling, and neurofibromas), the presence of other manifestations such as nevus anemicus and juvenile xanthogranuloma may be of high predictive value in patients with an uncertain diagnosis. Localized or mosaic NF1, also known as segmental neurofibromatosis, is caused by a postzygotic mutation responsible for the presence of the typical disease manifestations limited to a body segment. Although no follow-up protocols are available for these patients with mosaic NF1, the risk of complications is much lower than in the generalized forms of the disease. Malignant tumors are, probably, the most feared complication of NF1. In decreasing order, the most frequent neoplasms are optic nerve glioma, malignant peripheral nerve sheath tumor, gastrointestinal stromal tumors, and pheochromocytomas. Most malignant peripheral nerve sheath tumors are the result of malignant transformation of plexiform neurofibromas and early diagnosis is a decisive factor in the prognosis. In conclusion, NF1 is a multisystemic disease that requires multidisciplinary follow-up with dermatologists playing an important role.