[A boy with digital clubbing]

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive disorder.
• It is characterized by digital clubbing, arthritis, and pachydermia.
• Genetic mutations in genes regulating prostaglandin synthesis are implicated.

Observation:

• A 4-year-old boy presented with pan-digital clubbing and watch-glass nails.
• Additional findings included surgical closure of a patent arterial duct and decreased knee mobility.
• The patient had consanguineous parents, a known risk factor for recessive genetic disorders.

Findings:

• The clinical presentation was highly suggestive of Primary hypertrophic osteoarthropathy (PHO).
• Genetic testing confirmed a homozygous mutation in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD).
• This mutation is a known cause of PHO, validating the diagnosis.

Implications:

• This case highlights the importance of recognizing PHO in pediatric patients with suggestive symptoms.
• Genetic confirmation is crucial for accurate diagnosis and management of PHO.
• Understanding the genetic basis of PHO can lead to future therapeutic strategies.