Hereditary Vitamin D–Resistant Rickets Presenting as Alopecia. Issue 4 (11th June 2014)

• Record Type: Journal Article
• Authors: Casey, Genevieve; McPherson, Tess; Kini, Usha; Ryan, Fiona; Taibjee, Saleem M.; Moss, Celia; Burge, Susan
• Is Part Of: Pediatric dermatology. Volume 31:Issue 4(2014)
• Page Start: 519
• Page End: 520
• Publication Date: 2014-06-11
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.12327
• Languages: English
• ISSNs: 0736-8046

Abstract

<abstract abstract-type="main" id="pde12327-abs-0001"> <title>Abstract</title> <p>Hereditary vitamin D–resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (<italic>VDR</italic>) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147–2A&gt;T novel mutation in the <italic>VDR</italic> gene consistent with HVDRR. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of HVDRR because appropriate treatment leads to better growth and development of the child.</p> </abstract>