Neurofibromatoza reprezintă o maladie congenitală a sistemului nervos, ţesutului muscular, oaselor, pielii şi se caracterizează prin multiple neurofibroame şi pete pigmentate tip „cafe au lait” pe piele şi mucoase, asociindu-se cu diverse patologii neurologice, psihice, hormonale, ale scheletului. În cazul maladiei Recklinghauzen dimensiunile tumorilor pot fi de la 0,5 cm, atingând uneori dimensiuni enorme (30 – 40 cm). Unica metodă de tratament este chirurgicală. În legătură cu riscul înalt al malignizării tumorilor benigne (5,2 %), pacienţii necesită dispensarizare la oncolog.

Neurofibromatosis is an autosomal dominant disease characterized by disordered growth of ectodermal tissues, and is part of a group of disorders called Phakomatoses (neurocutaneous syndrome).Neurofibromatosis 1(NF1 Von Recklinghausen’s disease) is characterized by spots of increased skin pigmentation(cafй au lait spots), combined with peripheral nerve tumors and a variety of others dysplastic abnormalities of the skin, nervous system, bones, endocrine organs and blood vessels.The reponsible gene is located on the long arm of chromosome 17. Its incidence is 1 per 3.000 births and present in about 30 persons per 10.000 population. It is inherited as an autosomal dominant trait, but about 50 percent of cases arise as mutations. The peripheral nerve tumors of two types, schwannomas and neurofibromas. Both types of tumor occasionally become malignant.