1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia
November 1984
in “
The American Journal of Medicine
”
1,25-dihydroxyvitamin D resistance rickets alopecia hypocalcemia hypophosphatemia elevated serum alkaline phosphatase secondary hyperparathyroidism 1,25-dihydroxyvitamin D3 1,25-dihydroxyvitamin D3 receptors total-body alopecia vitamin D resistance hair loss calcium deficiency phosphate deficiency high alkaline phosphatase high parathyroid hormone vitamin D3 vitamin D3 receptors complete hair loss
TLDR A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
The document described two unrelated families with four children affected by 1,25-dihydroxyvitamin D resistance, rickets, and alopecia. These children showed early severe rickets, hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, and secondary hyperparathyroidism, along with total-body alopecia. Despite elevated serum levels of 1,25-dihydroxyvitamin D3 during treatment, the mineral disorder persisted, although secondary hyperparathyroidism and hypophosphatemia remitted. Skin biopsies revealed normal 1,25-dihydroxyvitamin D3 receptors in parents but undetectable receptors in affected children. Healing occurred spontaneously in older children, suggesting a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor, with mechanisms of healing remaining unclear.
