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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.

Original publication

DOI

10.1111/pde.12327

Type

Conference paper

Publication Date

2014

Volume

31

Pages

519 - 520

Keywords

Alopecia, Calcium Gluconate, Familial Hypophosphatemic Rickets, Humans, Infant, Male, Mutation, Phosphates, Receptors, Calcitriol, Vitamin D