Hereditary vitamin D-resistant rickets presenting as alopecia

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.