Effect of Calcium Supplementation on Bone Deformity and Histopathological Findings of Skin Papules in a Pediatric Patient with Vitamin D-Dependent Rickets Type 2A: A Case Report
January 2025
in “
Clinical Pediatric Endocrinology
”
Studysummary In a case study of vitamin D-dependent rickets type 2A, researchers observed that while active vitamin D treatment failed to improve bone and laboratory abnormalities, oral calcium lactate significantly ameliorated these issues, although skin and hair problems remained unresponsive.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
This case report discusses a pediatric patient with vitamin D–dependent rickets type 2A (VDDR2A), an autosomal recessive disease caused by pathogenic variants of the vitamin D receptor (VDR) gene. The patient exhibited resistance to active vitamin D treatment, which did not improve bone deformities or laboratory findings. However, oral calcium lactate supplementation significantly improved these conditions. The patient also experienced alopecia and skin papules, which are associated with VDR variants affecting the dimerization with the retinoic X receptor. Despite treatment, the skin papules and hair loss did not improve, and the report includes histopathological findings of the skin papules.
