Vitamin D Dependent Rickets Type II With Alopecia

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.