We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report.
- Authors
Rubaian, Nouf F Bin; Al-Awam, Bashayer S; Aljohani, Samah M; Almuhaidib, Serene R
- 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.
- Subjects
RICKETS; VITAMIN D receptors; VITAMINS; GENETIC disorders; HYPOPHOSPHATEMIA; BALDNESS; GLYCOGEN storage disease type II
- Publication
Clinical, Cosmetic & Investigational Dermatology, 2024, Vol 17, p13
- ISSN
1178-7015
- Publication type
Article
- DOI
10.2147/CCID.S438505