title: A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.
abstract: We present two PHO siblings having a novel homozygous truncating mutation in HPGD. The purpose of the study was to attempt medical treatment, and to find the HPGD mutation causing the disease, in a 22-year old Turkish male and his 23-year old sister afflicted with primary hypertrophic osteoarthropathy (PHO). In combination with NSAIDs and colchicine, treatment with sulfasalazine was started in both cases, and methotrexate was added to the treatment regimen of the female patient at the end of the first year. The patients were found to be typical PHO. Ultrasonographic examination of the joints revealed synovitis and inflammation by B mode and power Doppler ultrasonography. Joint symptoms responded to sulfasalazine treatment in both patients. However, after the addition of methotrexate, the female patient had better remission. All exons of HPGD, the known disease gene, were analyzed by Sanger sequencing. A homozygous 2-bp deletion (c.310_311delCT or p.L104AfsX3) was identified. Seven relatives carrying the mutation in the heterozygous state were examined and none was found affected. Although not specific for this disease, skin, soft tissue and joint ultrasonography can be helpful for evaluation of the musculoskeletal findings in the patients.
authors.affiliation: Department of Rheumatology-Immunology, Çukurova University Faculty of Medicine, Balcalı Hospital , Sarıçam , Turkey.
authors.forename: Eren
authors.initials: E
authors.lastname: Erken
authors.forename: Çiğdem
authors.initials: Ç
authors.lastname: Köroğlu
authors.forename: Fatih
authors.initials: F
authors.lastname: Yıldız
authors.forename: Hüseyin T E
authors.initials: HT
authors.lastname: Özer
authors.forename: Bozkurt
authors.initials: B
authors.lastname: Gülek
authors.forename: Aslıhan
authors.initials: A
authors.lastname: Tolun
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006911:Hydroxyprostaglandin Dehydrogenases / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010004:Osteoarthropathy, Primary Hypertrophic / Q000235:genetics*; D010375:Pedigree; D055815:Young Adult
chemical_list: D006911:Hydroxyprostaglandin Dehydrogenases; C035859:15-hydroxyprostaglandin dehydrogenase
keywords: 15-hydroxyprostaglandin dehydrogenase; Clubbing; HPGD; Pachydermoperiostosis; Primary hypertrophic osteoarthropathy