Rickets With Alopecia: An Inborn Error of Vitamin D Metabolism

    May 1979 in “ ˜The œjournal of pediatrics/˜The œJournal of pediatrics ”
    John F. Rosen, Alan R. Fleischman, Laurence Finberg, Alan J. Hamstra, Hector F. DeLuca
    TLDR Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
    The paper described a case of rickets with alopecia in two sisters, which was identified as an inborn error of vitamin D metabolism. The disorder began in the first year of life and was resistant to high doses of vitamin D2. Both children exhibited elevated serum levels of 1,25-(OH)2D, yet their intestines and bones were unresponsive to these high levels, maintaining normocalcemia despite elevated PTH levels. Treatment with oral 1,25-(OH)2D3 was ineffective, but significant clinical and radiographic improvements were observed with oral phosphorus supplements. The molecular basis of the disorder remained unclear.
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