title: Ipsilateral Sphenoid Wing Dysplasia, Orbital Plexiform Neurofibroma and Fronto-Parietal Dermal Cylindroma in a Patient with Segmental Neurofibromatosis.
abstract: Neurofibromatosis type 1 (NF1) is an autosomal-dominant inherited disease affecting various parts of the body. Penetrance is almost complete but the phenotype varies considerably. Recently, mosaicism in NF1 has come into the focus of scientific interest. This report refers to a patient with orbitotemporal-confined neurofibromatosis who developed a rare skin tumor in the region.
authors.affiliation: Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany rfriedrich@uke.de.
authors.forename: Reinhard E
authors.initials: RE
authors.lastname: Friedrich
authors.affiliation: Neuropathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Hagel
authors.affiliation: Neurology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
authors.forename: Victor-Felix
authors.initials: VF
authors.lastname: Mautner
mesh_terms: D005260:Female; D006801:Humans; D008875:Middle Aged; D018318:Neurofibroma, Plexiform / Q000473:pathology / Q000628:therapy*; D009456:Neurofibromatosis 1 / Q000473:pathology / Q000628:therapy*; D009918:Orbital Neoplasms / Q000473:pathology / Q000628:therapy*
keywords: NF1; Neurofibromatosis; dermal cylindroma; mosaicism; plexiform neurofibroma; rare tumor; sphenoid wing dysplasia