title: Hereditary vitamin D-resistant rickets presenting as alopecia.
abstract: 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.affiliation: Department of Dermatology, Oxford University Hospitals, Oxford, UK.
authors.forename: Genevieve
authors.initials: G
authors.lastname: Casey
authors.forename: Tess
authors.initials: T
authors.lastname: McPherson
authors.forename: Usha
authors.initials: U
authors.lastname: Kini
authors.forename: Fiona
authors.initials: F
authors.lastname: Ryan
authors.forename: Saleem M
authors.initials: SM
authors.lastname: Taibjee
authors.forename: Celia
authors.initials: C
authors.lastname: Moss
authors.forename: Susan
authors.initials: S
authors.lastname: Burge
mesh_terms: D000505:Alopecia / Q000188:drug therapy / Q000235:genetics*; D002125:Calcium Gluconate / Q000627:therapeutic use; D053098:Familial Hypophosphatemic Rickets / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010710:Phosphates / Q000627:therapeutic use; D018167:Receptors, Calcitriol / Q000235:genetics*; D014807:Vitamin D / Q000627:therapeutic use
chemical_list: D010710:Phosphates; D018167:Receptors, Calcitriol; D014807:Vitamin D; D002125:Calcium Gluconate