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J Med Genet 2006;43:810-813 doi:10.1136/jmg.2006.041095
  • Short report

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1

  1. M Lammert1,
  2. J M Friedman2,
  3. H J Roth3,
  4. R E Friedrich1,
  5. L Kluwe1,
  6. D Atkins4,
  7. T Schooler5,
  8. V-F Mautner1
  1. 1Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany
  2. 2Department of Medical Genetics, University of British Columbia, Vancouver, Canada
  3. 3Limbach Laboratory, Department of Endocrinology/Oncology, Heidelberg, Germany
  4. 4Institute of Pathology, University of Witten/Herdecke, Wuppertal, Germany
  5. 5Department of Paediatrics, University of British Columbia, and Child and Family Research Institute, Vancouver, Canada
  1. Correspondence to:
 Professor J M Friedman
 Medical Genetics Research Unit, Children’s and Women’s Hospital, Box 153, 4500 Oak Street, Vancouver, BC, Canada V6H 3N1; frid{at}interchange.ubc.ca
  • Received 19 January 2006
  • Accepted 8 March 2006
  • Revised 4 March 2006
  • Published Online First 29 March 2006

Abstract

Neurofibromatosis 1 (NF1) is a tumour suppressor gene syndrome characterized by multiple cutaneous and plexiform neurofibromas. Focal osseous abnormalities, short stature, and decreased bone mineral density are also frequent in people with NF1. We measured serum 25-hydroxyvitamin D concentrations in 55 patients with NF1 and 58 healthy controls, and correlated the findings in the patients with NF1 with their estimated number of dermal neurofibromas. Geometric mean (SD) serum 25-hydroxyvitamin D concentration was 14.0 (1.6) ng/mL among the patients with NF1 compared with 31.4 (1.7) ng/mL among healthy controls (p<<0.0001). The serum vitamin D concentration and number of dermal neurofibromas reported by patients with NF1 were inversely correlated (Spearman’s ρ = −0.572, p<0.00001). The occurrence of low serum vitamin D concentrations in people with NF1, especially those with many dermal neurofibromas, may provide new pathogenic insights and have important therapeutic implications.

Footnotes

  • Published Online First 29 March 2006

  • Competing interests: there are no competing interests.

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