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

Nouf F Bin RubaianBashayer S Al-AwamSamah M AljohaniSeereen R Almuhaidib
Published in: Clinical, cosmetic and investigational dermatology (2024)
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.
Keyphrases
  • mental health
  • gestational age
  • intellectual disability
  • gene expression
  • working memory
  • pregnant women
  • dna methylation
  • low grade
  • autism spectrum disorder
  • preterm birth
  • copy number
  • muscular dystrophy