Abstract
Neurofibromatosis is a relatively common autosomal dominant hereditary neuro-cutaneous disease caused by mutation in tumor-suppressor genes. It results in the development of multiple hamartomas, benign and malignant tumors.
The disease is currently classified into 3 individual subunits with different clinical presentations based on mutations of different genes - neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. The most common type is NF1.
The symptoms are age-dependent, the severity of clinical picture is variable. Cutaneous symptoms are present namely in NF1, they are less common in other types.
They include multiple café-au-lait spots and axillary and inguinal freckling. Neurofibromas, plexiform neurofibromas and optic gliomas are present in NF1, Lisch nodules in the iris are pathognomonic.
Vestibular schwannomas are typical for NF2, and multiple schwannomas in peripheral nerves are present in schwannomatosis. The prognosis differs and is based on the clinical picture and complications.
Diagnostic criteria play a key role in differentiating various types of neurofibromatosis and dermatological examination plays a key role. Patients should be concentrated in specialized centers.
The treatment of neurofibromatosis is symptomatic