Vitamin D Dependent Rickets Type II With Alopecia

    July 2013 in “ Journal of Life Sciences
    M. Vasudeva Murali, T.Usharani
    TLDR A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
    Vitamin D dependent rickets Type II (VDDR II) was a rare autosomal recessive disorder characterized by mutations in the vitamin D receptor gene, leading to an abnormal physiological response to 1,25-dihydroxyvitamin D3. A key diagnostic feature was elevated levels of 1,25-dihydroxyvitamin D3, with alopecia distinguishing it from Type I. The document reported a case of a 2-year-old girl with VDDR II, presenting with short stature, rickets, and alopecia. Despite treatment with high doses of calcitriol and oral calcium, the child showed little improvement, likely due to poor compliance.
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