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The main diagnostic signs are visible on the skin, and this opens several interesting aspects for dermatological point of view. The NF1 syndrome is caused by mutations in the <jats:italic>NF1<\/jats:italic> gene which encodes the tumor suppressor protein neurofibromin. Neurofibromin functions as a Ras\u2010GTPase\u2010activating protein (RasGAP), and <jats:italic>NF1<\/jats:italic> mutations lead to overactivation of the Ras signalling pathway. The <jats:italic>NF1<\/jats:italic> gene and neurofibromin have intriguing functions in keratinocytes and melanocytes. Neurofibromin regulates melanin synthesis and keratinocyte differentiation in a currently unknown manner. The <jats:italic>NF1<\/jats:italic> gene has also an important but poorly understood role in tumorigenesis and cancer. Compared to the general population, NF1 patients have a fivefold risk for cancer and a more than 2000\u2010fold risk for neurogenic malignancies. Mutations of the <jats:italic>NF1<\/jats:italic> gene are common in numerous cancer types in patients without NF1, and this suggests a more general role for the <jats:italic>NF1<\/jats:italic> gene in oncogenesis. In melanoma, <jats:italic>NF1<\/jats:italic> mutations seem to drive tumorigenesis and contribute to drug resistance. In this article, we review the literature on neurofibromin with special attention to keratinocytes, melanocytes, NF1\u2010related tumors and melanoma.<\/jats:p>","DOI":"10.1111\/exd.13212","type":"journal-article","created":{"date-parts":[[2016,9,13]],"date-time":"2016-09-13T15:02:43Z","timestamp":1473778963000},"page":"645-648","source":"Crossref","is-referenced-by-count":47,"title":["Neurofibromatosis type 1 (<i>NF1<\/i>) gene: Beyond caf\u00e9 au lait spots and dermal neurofibromas"],"prefix":"10.1111","volume":"26","author":[{"given":"Sirkku","family":"Peltonen","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Turku, and Turku University Hospital  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roope A.","family":"Kallionp\u00e4\u00e4","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Anatomy Institute of Biomedicine University of Turku  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Peltonen","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Anatomy Institute of Biomedicine University of Turku  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,12,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"crossref","unstructured":"E.Uusitalo J.Lepp\u00e4virta A.KoffertS.Suominen J.Vahtera T.Vahlberg M.P\u00f6yh\u00f6nen J.Peltonen S.Peltonen J. 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