Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report

Nouf F Bin Rubaian; Bashayer S Al-Awam; Samah M Aljohani; Serene R Almuhaidib

doi:10.2147/CCID.S438505

Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report

Clin Cosmet Investig Dermatol. 2024 Jan 3:17:13-16. doi: 10.2147/CCID.S438505. eCollection 2024.

Authors

Nouf F Bin Rubaian¹, Bashayer S Al-Awam², Samah M Aljohani¹, Serene R Almuhaidib³

Affiliations

¹ Department of Dermatology, King Fahad University Hospital, Al Khobar, Saudi Arabia.
² Department of Pediatrics, King Fahad University Hospital, Al Khobar, Saudi Arabia.
³ Department of Dermatology, Dammam Medical Complex, Dammam, Saudi Arabia.

Abstract

Vitamin D-dependent rickets type II (VDDR2) is a rare inherited autosomal recessive disorder wherein the genetic mutation results in a defect in the vitamin D receptor (VDR), thus leading to target resistance to 1.25-dihydroxy vitamin D. This results in hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and rickets. We report a case of a four-year-old female child with diffuse alopecia starting 2 weeks after birth, along with frontal bossing, hypoplastic teeth, and an unusual presentation of multiple skin-colored papules over the back. Genetic testing confirmed vitamin D-dependent rickets type 2A.

Keywords: genetic mutation; hypocalcemic vitamin D-resistant rickets; pseudovitamin D-deficiency; rickets-alopecia syndrome.

Publication types

Case Reports