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Hereditary vitamin D-resistant rickets presenting as alopecia
Genevieve Casey1, Tess McPherson, Usha Kini
1Department of Dermatology, Oxford University Hospitals, Oxford, UK.
Insights
Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder. Early recognition of alopecia, a key sign, is crucial for timely VDR gene mutation treatment and improved child development.
Area of Science:
- Pediatric Endocrinology
- Medical Genetics
- Dermatology
Background:
- Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder.
- It results from mutations in the vitamin D receptor (VDR) gene, impairing vitamin D metabolism.
- HVDRR necessitates early diagnosis for effective management and to prevent long-term complications.
Observation:
- A case is presented of an infant with alopecia, growth failure, and delayed gross motor development.
- Clinical presentation and skeletal surveys indicated rickets.
- The infant showed a poor response to conventional rickets treatment.
Findings:
- Genetic testing revealed a novel c.147-2A>T mutation in the VDR gene.
- This mutation confirmed the diagnosis of Hereditary vitamin D-resistant rickets (HVDRR).
- The specific VDR gene mutation identified is linked to the observed clinical phenotype.
Implications:
- Alopecia should be recognized as a potential presenting sign of HVDRR by pediatricians and dermatologists.
- Early diagnosis and targeted treatment of HVDRR can significantly improve growth and developmental outcomes.
- This case highlights the importance of genetic testing in diagnosing rare pediatric disorders with complex presentations.
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.
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