P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis
Copyright policy )P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis
Autosomal recessive primary hypertrophic osteoathropathy (PHO), also known as pachydermoperiostosis (PDP), is a rare genetic disease characterized by clubbing of the fingers, arthritis, periostosis and pachydermia and results from mutations in 15-hydroxyprostaglandin dehydrogenase (HPGD). Recessive mutations in 15-hydroxyprostaglandin dehydrogenase in PHO subjects. has been identified since 2008. Both homozygous and compound heterozygous mutations in HPGD have been reported. Homozygous patients had increased sustained prostaglandin E2 levels and prominent clinical and biochemical PHO.
- Cukurova University Turkey
- Cukurova University Faculty of Medicine Turkey
- Boğaziçi University Turkey
Rheumatology, Meeting Abstract, Immunology and Allergy, Pediatrics, Perinatology, and Child Health
Rheumatology, Meeting Abstract, Immunology and Allergy, Pediatrics, Perinatology, and Child Health
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