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Hereditary Vitamin D–Resistant Rickets Presenting as Alopecia
Author(s) -
Casey Genevieve,
McPherson Tess,
Kini Usha,
Ryan Fiona,
Taibjee Saleem M.,
Moss Celia,
Burge Susan
Publication year - 2014
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12327
Subject(s) - rickets , medicine , calcitriol receptor , vitamin d and neurology , vitamin , vitamin d deficiency , endocrinology , pediatrics
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.