Zusammenfassung
Neurofibromatose (NF) und tuberöse Sklerose (TS) sind dominant erbliche Phakomatosen mit hoher Penetranz und sehr variabler Expressivität. Spontanmutationen sind relativ häufig. Neben Veränderungen an Haut und Nervensystem können praktisch alle anderen Gewebe und Organsysteme betroffen sein. Eine Korrelation zwischen Schwere der Hauterscheinungen und der übrigen Organbeteiligung besteht nicht. Sieht man von diesen Gemeinsamkeiten ab, gibt es keine weiteren Beziehungen zwischen diesen beiden Phakomatosen.
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Haneke, E. (1989). Neurofibromatose und tuberöse Sklerose. In: Weinmann, HM. (eds) Aktuelle Neuropädiatrie 1988. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-74499-0_12
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