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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

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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.
Keywords
plexiform neurofibroma, orbital neurofibroma, enlarged corneal nerves, marfanoid habitus, PROMINENT CORNEAL NERVES, NEOPLASIA TYPE 2B, MUCOSAL NEUROMA SYNDROME, DISEASE, TYPE-1, RET, MANAGEMENT

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MLA
Babovic-Vuksanovic, D., et al. “Multiple Orbital Neurofibromas, Painful Peripheral Nerve Tumors, Distinctive Face and Marfanoid Habitus: A New Syndrome.” EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 20, no. 6, 2012, pp. 618–25.
APA
Babovic-Vuksanovic, D., Messiaen, L., Nagel, C., Brems, H., Scheithauer, B., Denayer, E., … Legius, E. (2012). Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS, 20(6), 618–625.
Chicago author-date
Babovic-Vuksanovic, D, Ludwine Messiaen, Christoph Nagel, Hilde Brems, Bernd Scheithauer, Ellen Denayer, Rong Mao, et al. 2012. “Multiple Orbital Neurofibromas, Painful Peripheral Nerve Tumors, Distinctive Face and Marfanoid Habitus: A New Syndrome.” EUROPEAN JOURNAL OF HUMAN GENETICS 20 (6): 618–25.
Chicago author-date (all authors)
Babovic-Vuksanovic, D, Ludwine Messiaen, Christoph Nagel, Hilde Brems, Bernd Scheithauer, Ellen Denayer, Rong Mao, Ralf Sciot, Karen M Janowski, Martin U Schuhmann, Kathleen Claes, Eline Beert, James A Garrity, Robert J Spinner, Anat Stemmer-Rachamimov, Ralitza Gavrilova, Frank Van Calenbergh, Victor Mautner, and Eric Legius. 2012. “Multiple Orbital Neurofibromas, Painful Peripheral Nerve Tumors, Distinctive Face and Marfanoid Habitus: A New Syndrome.” EUROPEAN JOURNAL OF HUMAN GENETICS 20 (6): 618–625.
Vancouver
1.
Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, et al. Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2012;20(6):618–25.
IEEE
[1]
D. Babovic-Vuksanovic et al., “Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome,” EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 20, no. 6, pp. 618–625, 2012.
@article{2043828,
  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.},
  author       = {Babovic-Vuksanovic, D and Messiaen, Ludwine and Nagel, Christoph and Brems, Hilde and Scheithauer, Bernd and Denayer, Ellen and Mao, Rong and Sciot, Ralf and Janowski, Karen M and Schuhmann, Martin U and Claes, Kathleen and Beert, Eline and Garrity, James A and Spinner, Robert J and Stemmer-Rachamimov, Anat and Gavrilova, Ralitza and Van Calenbergh, Frank and Mautner, Victor and Legius, Eric},
  issn         = {1018-4813},
  journal      = {EUROPEAN JOURNAL OF HUMAN GENETICS},
  keywords     = {plexiform neurofibroma,orbital neurofibroma,enlarged corneal nerves,marfanoid habitus,PROMINENT CORNEAL NERVES,NEOPLASIA TYPE 2B,MUCOSAL NEUROMA SYNDROME,DISEASE,TYPE-1,RET,MANAGEMENT},
  language     = {eng},
  number       = {6},
  pages        = {618--625},
  title        = {Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome},
  url          = {http://dx.doi.org/10.1038/ejhg.2011.275},
  volume       = {20},
  year         = {2012},
}

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