Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
January 2024
in “
Clinical, cosmetic and investigational dermatology
”
alopecia Vitamin D-dependent rickets type II A VDDR2A hypocalcemia hypophosphatemia secondary hyperparathyroidism rickets VDR gene 1-Alpha Calcic hair loss Vitamin D-resistant rickets calcium deficiency phosphate deficiency parathyroid hormone imbalance bone softening vitamin D receptor gene alfacalcidol calcium supplement
TLDR A child with a rare vitamin D-resistant condition improved with treatment.
The document presents a case study of a 4-year-old female child diagnosed with Vitamin D-dependent rickets type II A (VDDR2A), a rare inherited disorder characterized by resistance to vitamin D, leading to hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and rickets. The patient exhibited symptoms such as total body hair loss, delayed growth, bone discomfort, and reduced height. Genetic testing confirmed the presence of a homozygous pathogenic variant in the VDR gene, confirming the diagnosis of VDDR2A. The patient was treated with 1-Alpha 1 mcg twice per day and Calcic 5 mL twice per day, which normalized her serum calcium levels after 6 months. The study emphasizes the importance of early diagnosis of VDDR2A to optimize development and growth. The condition is more frequently documented in Arab populations, possibly due to a high incidence of the disease’s gene within Arab communities or the elevated rate of consanguineous marriages.
