The neurofibromatosis service jointly studies the genes related to neurofibromatosis type 1, type 2 and Legius syndrome.
Neurofibromatosis type 1 is a neurocutaneous disorder of clinically heterogeneous genetic origin. It is characterized by the appearance of multiple café-au-lait spots, Lisch nodules in the iris, axillary or inguinal ephelides, and multiple cutaneous and subcutaneous neurofibromas. The predisposition to different tumors also stands out, with an eminent position of gliomas of the optic pathway.
Neurofibromatosis type 2 is characterized by a predisposition to the development of schwannomas, which typically affect both vestibular nerves and cause hearing loss and deafness. Likewise, patients are predisposed to the development of both intracranial (including optic nerve meningiomas) and intraspinal meningiomas. Along with the development of tumors, it is notable that approximately 70% of patients with the NF2 gene affected suffer from skin tumors (intracutaneous plaque-shaped lesions or deeper subcutaneous nodular tumors).
Legius syndrome resembles neurofibromatosis type 1 in presentation. Patients present with multiple café-au-lait spots often associated with intertriginous freckles, but lack Lisch nodules, optic pathway gliomas, bone abnormalities, neurofibromas, or other tumor manifestations.
