Neurofibromatosis type I

Abstract

The neurofibromatosis type 1 is a autosomal dominant disease which the diagnosis is made based on clinical criteria. Its three main features -neurofibromas, cafe au lait macules and Lisch nodules occur in up to 90% of the pacients until puberty. We documented a clinical case of a young male pacient who had the diagnosis of neurofibromatosis type 1 and family history, describing its clinical aspects and radiological features.