Journal des syndromes génétiques et de la thérapie génique
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Hiding in Plain Sight: A Consideration of NF1-Associated Hypovitaminosis D and its Treatment

Vincent M. Riccardi

This article deals with the autosomal dominant human genetic disorder, Neurofibromatosis Type 1 (NF1), and has three main foci. The first is the general principle that substantial advances in understanding the pathogenesis of a genetic disorder can derive from the timely reconsideration of material previously overlooked or otherwise not given its due. There are times when the key to a supposed “mystery” is hiding in plain sight. The second focus is the specific consideration of selected elements of an apparent vitamin D deficiency in NF1. And the third focus of this article reconsiders the mast cell in NF1 pathogenesis, including the potential of NF1 being a “mastocytosis” of sorts, with the prospect of additional grounds for treatment with mast cell blockers, for example, ketotifen.