Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder caused by mutations of chromosome 17. The NF1 clinical diagnosis is based on pre-established criteria, including the presence of cutaneous neurofibromas, cafe au lait spots, and iris (Lisch) nodules. Early detection and a...

Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder caused by mutations of chromosome 17. The NF1 clinical diagnosis is based on pre-established criteria, including the presence of cutaneous neurofibromas, cafe au lait spots, and iris (Lisch) nodules. Early detection and a multidisciplinary approach are essential for the prevention of complications, including problems of function, aesthetics, and self-esteem, as well as the occurrence of malignant transformation. This study reports a case of an exuberant NF1 manifestation diagnosed by a dental surgeon, whose investigation of a family led to the diagnosis of NF1, with different expressivities, in 3 generations

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