title: Intraorbital plexiform neurofibroma in an NF-1-negative patient.
abstract: A 52-year-old patient presented with an orbital swelling and exophthalmos that enlarged over a period of about 40 years. The clinical examination showed massive exophthalmos and ptosis of the right eye without diplopia. The radiological investigation (MRI, CT and ultrasound) showed an unclear intraorbital mass with erosion of the orbital floor, infraorbital rim and orbital roof. The lesion was diagnosed histologically as a plexiform neurofibroma. The patient did not present any features of neurofibromatosis type 1 (NF-1) and molecular genetic analysis was unable to uncover a pathogenic sequence alteration in the NF-1 gene. Owing to the absence of clinical and ophthalmologic symptoms and the improbability of complete removal, the patient refused surgical intervention.
authors.affiliation: Department of Oral and Craniomaxillofacial Surgery, Medical University of Innsbruck, Maximilianstr. 10, A-6020 Innsbruck, Austria. siegfried.jank@gmx.de
authors.forename: S
authors.initials: S
authors.lastname: Jank
authors.forename: E J
authors.initials: EJ
authors.lastname: Raubenheimer
authors.forename: M R
authors.initials: MR
authors.lastname: Bouckaert
authors.forename: P
authors.initials: P
authors.lastname: Obrist
authors.forename: G
authors.initials: G
authors.lastname: Bodner
authors.forename: A
authors.initials: A
authors.lastname: Rudisch
authors.forename: I
authors.initials: I
authors.lastname: Baldissera
authors.forename: K
authors.initials: K
authors.lastname: Wimmer
authors.forename: H
authors.initials: H
authors.lastname: Strobl
mesh_terms: D004252:DNA Mutational Analysis; D005094:Exophthalmos / Q000209:etiology; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018318:Neurofibroma, Plexiform / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D009918:Orbital Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography