Casey Genevieve, McPherson Tess, Kini Usha, Ryan Fiona, Taibjee Saleem M, Moss Celia, Burge Susan
Department of Dermatology, Oxford University Hospitals, Oxford, UK.
Pediatr Dermatol. 2014 Jul-Aug;31(4):519-20. doi: 10.1111/pde.12327. Epub 2014 Jun 11.
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.
遗传性维生素D抵抗性佝偻病（HVDRR）是一种罕见的常染色体隐性疾病，由维生素D受体（VDR）基因突变引起。我们报告一例婴儿病例，该婴儿表现为脱发、生长发育迟缓及粗大运动发育延迟。血清生化检查和骨骼检查结果与佝偻病相符。在对标准治疗反应不佳后，基因检测证实VDR基因存在一个与HVDRR一致的c.147-2A>T新突变。皮肤科医生和儿科医生认识到脱发是HVDRR的一个表现体征很重要，因为适当治疗可使儿童获得更好的生长发育。
