Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design

摘要

We herein describe the relevance of Vitamin D for human health, with a special focus on its role in Neurofibromatosis type 1 (NF1) disease. Indeed, epidemiological studies revealed that low circulating vitamin D levels inversely correlate with cutaneous manifestations and bone abnormalities, clinical hallmarks of NF1. NF1 is an autosomal dominant syndrome with a severe predisposition in developing tumors and for which limited treatment options are thus far available. In this context, vitamin D or its analogues has been used to treat both skin and bone lesions in NF1 patients, alone or in association with other therapeutic agents. We provide an exhaustive and detailed analysis of the most relevant preclinical and clinical studies aimed at analyzing the correlation between vitamin D deficiency and NF1 lesion progression. This review can add a valuable contribution to the current knowledge of NF1 disease investigating possible therapeutic strategies to ameliorate NF1 conditions.