Vitamin D Dependent Rickets 2A With Alopecia: Three Cases With Novel Genetic Variants.

Abstract

Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters. This case series emphasizes that early identification of this rare cause of alopecia and treating the metabolic abnormalities can improve bone health.