Dermatopathology, Volume 8, Issue 1 (March 2021) – 11 articles
Cover Story (view full-size image): Neurofibromatosis type I (NF1) or von Recklinghausen’s disease is a very common genetic disease caused by the mutation of a tumor suppressor gene. Its principal clinical manifestation is benign cutaneous and oral neurofibromas that rarely undergo malignant transformation into a malignant peripheral nerve sheath tumor. Other dermatological clinical signs as well as ocular and skeletal abnormalities are also part of its diagnosis criteria. As NF1 has almost 100% penetrance, with a variable phenotypic expression, we believe it necessary for clinicians to be acquainted with oral alterations and include regular oral cavity examination during follow-up visits to those patients. In this study, we present a literature review of the oral and cutaneous manifestations of NF1 and describe a clinical case of an NF1 patient who presents cutaneous and oral lesions. View this paper.
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