Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report.

The document reports a case of a 4-year-old boy diagnosed with Vitamin D-dependent rickets type II, a rare hereditary disorder characterized by mutations in the gene responsible for the vitamin D receptor, leading to resistance to vitamin D and, in severe cases, alopecia. The boy presented with hair loss from the scalp and body since one month of age and developed walking difficulties at two years old. Laboratory tests showed a reduced serum calcium level of 7.5 mg/dL and an elevated alkaline phosphatase level of 625 IU/L. Treatment included a single intramuscular dose of 600,000 IU of vitamin D and a daily regimen of 400 IU of vitamin D with 1 g of calcium. After two months of follow-up, there was an improvement in biochemical parameters and bone health as seen in X-rays, but no improvement in the alopecia condition.