Vitamin D Dependent Rickets Type II With Alopecia

July 2013 in “ Journal of Life Sciences ”

M. Vasudeva Murali, T.Usharani

Vitamin D dependent rickets Type II alopecia vitamin D receptor gene 1,25-dihydroxyvitamin D3 calcitriol Vitamin D receptor Vitamin D3

Studysummary In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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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Research cited in this study

4 / 4 results

research Metabolic And Cellular Analysis Of Alopecia In Vitamin D Receptor Knockout Mice

137 citations , April 2001 in “Journal of Clinical Investigation”

This study found that alopecia in VDR-null mice persists despite undetectable vitamin D levels, indicating a defect in epithelial-mesenchymal communication due to the absence of ligand-independent receptor function.

research Two Siblings With Vitamin-D-Dependent Rickets Type II: No Recurrence Of Rickets For 14 Years After Cessation Of Therapy

47 citations , October 1989 in “European Journal of Pediatrics”

Two siblings stayed rickets-free for 14 years after stopping treatment.

research Vitamin D-Dependent Rickets Type II: Extreme End Organ Resistance to 1,25-Dihydroxy Vitamin D3 in a Patient Without Alopecia

50 citations , October 1986 in “European journal of pediatrics”

This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.

research Type II Vitamin D Dependent Rickets: A Case Report

5 citations , January 1970 in “Journal of Nepal Paediatric Society”

This article reviews Vitamin D-dependent rickets Type II with a focus on alopecia as a potential diagnostic clue for this rare disorder, reporting no new clinical findings.