JOURNAL ARTICLE

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

  • Published In: Pediatric Dermatology, 2025, v. 42, n. 3. P. 615 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Chiramel, Minu Jose; George, Anju; Sathishkumar, Dharshini; Simon, Anna; Mathai, Sarah 3 of 3

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. [ABSTRACT FROM AUTHOR]

Additional Information

  • Source:Pediatric Dermatology. 2025/05, Vol. 42, Issue 3, p615
  • Document Type:Article
  • Subject Area:Consumer Health
  • Publication Date:2025
  • ISSN:0736-8046
  • DOI:10.1111/pde.15853
  • Accession Number:185490327
  • Copyright Statement:Copyright of Pediatric Dermatology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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