{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T07:51:04Z","timestamp":1766044264685,"version":"3.48.0"},"reference-count":0,"publisher":"Jaypee Brothers Medical Publishing","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAPI"],"published-print":{"date-parts":[[2025,11,10]]},"abstract":"<jats:p>Hypertrophic osteoarthropathy (HOA), also known as pachydermoperiostosis is an unusual cause of \ndigital clubbing. It is a rare osteo-arthro-dermopathic syndrome which is associated with clubbing \nof fingers, thickening of skin in the face and scalp, seborrhea, and subperiosteal new bone genesis. \nIt is divided into two types: Primary (PHOA) and secondary HOA, with the latter being common. \nPHOA accounts for a very meager portion of HOA cases. PHOA is usually inherited in an autosomal \ndominant fashion and rarely follows autosomal recessive inheritance pattern. We report a case of \na male who presented with a history of progressive and painful enlargement of distal phalanges \nof hands and feet for 6 years. After all examinations and tests ruled out the secondary causes for \nHOA, genetic sequencing was performed to confirm the diagnosis of PHOA. Sequencing revealed \nhomozygous nonsense mutation in SLCO2A1 gene. This mutation is postulated to impair the \ndegradation of prostaglandin E2 (PGE2), leading to its elevated levels. PHOA is an atypical cause of \nclubbing which usually poses a challenge in diagnosis. This report also underscores the importance \nof genetic sequencing in appropriate diagnosis and management of the PHOA.<\/jats:p>","DOI":"10.59556\/japi.73.1227","type":"journal-article","created":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T07:48:52Z","timestamp":1766044132000},"page":"21-23","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Primary Hypertrophic Osteoarthropathy  Secondary to SLCO2A1 Gene Mutation"],"prefix":"10.59556","volume":"73","author":[{"given":"Nagaraja","family":"Kamath","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinay","family":"N","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aravind","family":"GN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2914","published-online":{"date-parts":[[2025,11,10]]},"container-title":["Journal of the Association of Physicians of India"],"original-title":[],"deposited":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T07:48:53Z","timestamp":1766044133000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.japi.org\/article\/japi-73-11-s1-21"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,10]]},"references-count":0,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,10]]},"published-print":{"date-parts":[[2025,11,10]]}},"URL":"https:\/\/doi.org\/10.59556\/japi.73.1227","relation":{},"ISSN":["0004-5772"],"issn-type":[{"value":"0004-5772","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11,10]]}}}