title: Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
abstract: Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder.
authors.affiliation: Department of Medical Genetics, Mayo College of Medicine, Rochester, MN 55905, USA. dbabovic@mayo.edu
authors.forename: D
authors.initials: D
authors.lastname: Babovic-Vuksanovic
authors.forename: Ludwine
authors.initials: L
authors.lastname: Messiaen
authors.forename: Christoph
authors.initials: C
authors.lastname: Nagel
authors.forename: Hilde
authors.initials: H
authors.lastname: Brems
authors.forename: Bernd
authors.initials: B
authors.lastname: Scheithauer
authors.forename: Ellen
authors.initials: E
authors.lastname: Denayer
authors.forename: Rong
authors.initials: R
authors.lastname: Mao
authors.forename: Raf
authors.initials: R
authors.lastname: Sciot
authors.forename: Karen M
authors.initials: KM
authors.lastname: Janowski
authors.forename: Martin U
authors.initials: MU
authors.lastname: Schuhmann
authors.forename: Kathleen
authors.initials: K
authors.lastname: Claes
authors.forename: Eline
authors.initials: E
authors.lastname: Beert
authors.forename: James A
authors.initials: JA
authors.lastname: Garrity
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Spinner
authors.forename: Anat
authors.initials: A
authors.lastname: Stemmer-Rachamimov
authors.forename: Ralitza
authors.initials: R
authors.lastname: Gavrilova
authors.forename: Frank
authors.initials: F
authors.lastname: Van Calenbergh
authors.forename: Victor
authors.initials: V
authors.lastname: Mautner
authors.forename: Eric
authors.initials: E
authors.lastname: Legius
mesh_terms: D000293:Adolescent; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology*; D009154:Mutation; D018317:Nerve Sheath Neoplasms / Q000473:pathology*; D017253:Neurofibromatoses / Q000473:pathology*; D010146:Pain / Q000235:genetics / Q000473:pathology; D012583:Schwann Cells / Q000378:metabolism; D055815:Young Adult