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  • Title: Rickets with alopecia: an inborn error of vitamin D metabolism.
    Author: Rosen JF, Fleischman AR, Finberg L, Hamstra A, DeLuca HF.
    Journal: J Pediatr; 1979 May; 94(5):729-35. PubMed ID: 221630.
    Abstract:
    Rickets with alopecia, an inborn error of vitamin D metabolism, is described in two sisters. The rachitic disorder began during the first year of life and was refractory to 50,000 IU of vitamin D2/day. Surprisingly, both children had marked elevations in serum concentrations of 1,25-(OH)2D. Although the molecular basis for this disorder is not evident to date, intestinal end-organ unresponsiveness to exceedingly high levels of 1,25-(OH)2D was present, in addition to hyporesponsiveness of bone to these high levels of the hormone, since normocalcemia was maintained despite elevated serum levels of PTH. Therapy with oral 1,25-(OH)2D3 failed to reverse the disorder, but oral phosphorus supplements resulted in significant radiographic and clinical improvement.
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