Neurofibromatoses

Neurofibromatoser

Svensk definition

En grupp sjukdomstillstånd kännetecknade av ett autosomalt dominant ärftlighetsmönster med hög frekvens av spontana mutationer och ett flertal neurofibrom eller neurilemmom. Neurofibromatos 1 (allmän neurofibromatos) utgör ca 95% av alla fall; ett flertal andra undertyper (neurofibromatos 2, neurofibromatos 3 osv) har dock beskrivits.

Engelsk definition

A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Neurofibromatosis Neurofibromatosis Syndrome Neurofibromatosis Syndromes Syndrome, Neurofibromatosis Syndromes, Neurofibromatosis Multiple Neurofibromas Multiple Neurofibroma Neurofibroma, Multiple Neurofibromas, Multiple Neurofibromatosis 3 Neurofibromatosis 3s Neurofibromatosis Type 3 Neurofibromatosis Type 3s Type 3, Neurofibromatosis