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This Article Full Text Full Text (PDF) All Versions of this Article: jmg.2006.041095v1 43/10/810    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Lammert, M Articles by Mautner, V-F Search for Related Content PubMed PubMed Citation Articles by Lammert, M Articles by Mautner, V-F Pubmed/NCBI databases OMIM Compound via MeSH Substance via MeSH Genetics Home Reference Medline Plus Health Information Neurofibromatosis Nutrition Skin Cancer

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1

¹ Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany
² Department of Medical Genetics, University of British Columbia, Vancouver, Canada
³ Limbach Laboratory, Department of Endocrinology/Oncology, Heidelberg, Germany
⁴ Institute of Pathology, University of Witten/Herdecke, Wuppertal, Germany
⁵ Department of Paediatrics, University of British Columbia, and Child and Family Research Institute, Vancouver, Canada

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] 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 = –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.

Abbreviations: MPNSTs, malignant peripheral nerve sheath tumours; NF1, neurofibromatosis 1

Keywords: neurofibromatosis 1; vitamin D; neurofibroma