P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis
نویسندگان
چکیده
Introduction 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.
منابع مشابه
Infiltration of mast cells in pachydermia of pachydermoperiostosis
Dear Editor, Pachydermoperiostosis (PDP; Online Mendelian Inheritance in Man #614441) is a rare hereditary disease characterized by distinctive digital clubbing, periostosis and pachydermia. Patients with PDP harbor homozygous mutations in the solute carrier organic anion transporter family member 2A1 gene (SLCO2A1) or the 15-hydroxyprostaglandin dehydrogenase gene (HPGD), resulting in elevated...
متن کاملIdentification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1) were reported as pathogenic ...
متن کاملA novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.
OBJECTIVES Homozygous mutations in HPGD gene, encoding 15-hydroxyprostaglandin dehydrogenase, have recently been associated with primary hypertrophic osteoarthropathy (PHO). So far, only 7 HPGD alterations are known. In order to expand this mutational spectrum and better delineate the HPGD-related phenotype, we report the clinical and molecular characterisation of a 13-year-old boy and compare ...
متن کاملCommon and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
OBJECTIVE Homozygous recessive germline mutations of the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene, encoding 15-hydroxyprostaglandin dehydrogenase, result in persistent elevation of circulating PGE(2) levels, causing the syndrome of primary hypertrophic osteoarthropathy (PHO). Homozygous HPGD mutations have so far been reported in 10 families, all but one displaying parental consanguini...
متن کاملPrimary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly
SUMMARY A 20-year-old man with an 8-year history of progressive enlargement of his hands and feet, coarsening facial features, painful joints and thickened, oily skin was referred for investigation of acromegaly. On examination, the subject was of normal height and weight. He had markedly increased skin thickness around the forehead, eyelids and scalp with redundant skin folds. Bilateral painfu...
متن کامل