Open AccessThe Neurofibromatoses
Author(s) -
Said Farschtschi,
VictorFelix Mautner,
Anna C. Lawson McLean,
Alexander Schulz,
Reinhard E. Friedrich,
Steffen K. Rosahl
Publication year - 2020
Publication title -
deutsches ärzteblatt international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.436
H-Index - 60
ISSN - 1866-0452
DOI - 10.3238/arztebl.2020.0354
Subject(s) - medicine , neurofibromatosis , neurofibromatosis type 2 , neurofibromatoses , schwannoma , smarcb1 , disease , plexiform neurofibroma , neurofibroma , bioinformatics , pathology , genetics , epigenetics , biology , chromatin remodeling , gene
Neurofibromatosis of types 1 and 2 (NF1, NF2) and schwannomatosis are the diseases that make up the neurofibromatosis spectrum. With respective incidences of 1 in 3000, 1 in 33 000, and 1 in 60 000 births, they form part of the group of rare tumor-suppressor syndromes. They give rise to a greater tumor burden for the nervous system than any other type of neoplastic disease. New approaches to symptomatic treatment are emerging.
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