Hereditary vitamin D-resistant rickets presenting as alopecia.

Conference item

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) 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>T novel mutation in the VDR 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.

Authors: Casey, G; Mcpherson, T; Kini, U; Ryan, F; Taibjee, S

• Publication status: Published
• Host title: Pediatric dermatology
• Volume: 31
• Issue: 4
• Pages: 519-520
• Publication date: 2014-01-01
• Event location: United States
• DOI: 10.1111/pde.12327
• EISSN: 1525-1470
• ISSN: 0736-8046