Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: delayed diagnosis and the importance of the multidisciplinary approach
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, café au lait spots, and iris (Lisch) nodules. Early detection and a multidi...