{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:23:32Z","timestamp":1772166212498,"version":"3.50.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T00:00:00Z","timestamp":1684886400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T00:00:00Z","timestamp":1684886400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Rheumatol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase\n                      <jats:italic>(HPGD)<\/jats:italic>\n                      or Solute Carrier Organic Anion Transporter Family Member 2A1 (\n                      <jats:italic>SLCO2A1)<\/jats:italic>\n                      genes. However, autosomal dominant transmission has also been described in some families with incomplete penetrance. PHO usually starts in childhood or adolescence, presenting with digital clubbing, osteoarthropathy, and pachydermia. We described a complete form of the syndrome in a male patient with a homozygous variant in the SLCO2A1 gene (c.1259G\u2009&gt;\u2009T).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 20-year-old male was referred to our Pediatric Rheumatology Clinic with a five-year history of painful and swollen hands, knees, ankles and feet, prolonged morning stiffness and relief with non-steroidal antiinflammatory drugs. He also reported late onset facial acne and palmoplantar hyperhidrosis. Family history was irrelevant and parents were non-consanguineous. On clinical examination, he presented clubbing of the fingers and toes, moderate acne and marked facial skin thickening with prominent scalp folds. He had hand, knee, ankles and feet swelling. Laboratory investigations showed elevated inflammatory markers. Complete blood count, renal and hepatic function, bone biochemistry were normal, as well as immunological panel. Plain radiographs revealed soft tissue swelling, periosteal ossification and cortical thickening of the skull, phalanges, femur and toe acroosteolysis. Due to the absence of other clinical signs suggesting a secondary cause, we suspected PHO. A genetic study revealed a likely pathogenic variant, c.1259G\u2009&gt;\u2009T(p.Cys420Phe), in homozygosity in the\n                      <jats:italic>SLCO2A1<\/jats:italic>\n                      gene, thus confirming the diagnosis. The patient started oral naproxen with significant clinical improvement.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PHO should be kept in the differential diagnosis of inflammatory arthritis affecting children, often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). To the best of our knowledge, this is the second genetically confirmed case of PHO in a Portuguese patient (first variant c.644\u00a0C\u2009&gt;\u2009T), both made at our department.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12969-023-00831-w","type":"journal-article","created":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T06:02:47Z","timestamp":1684908167000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6410-0121","authenticated-orcid":false,"given":"Rafaela","family":"Nicolau","sequence":"first","affiliation":[]},{"given":"Tiago","family":"Beir\u00e3o","sequence":"additional","affiliation":[]},{"given":"Francisca","family":"Guimar\u00e3es","sequence":"additional","affiliation":[]},{"given":"Francisca","family":"Aguiar","sequence":"additional","affiliation":[]},{"given":"Sara","family":"Ganh\u00e3o","sequence":"additional","affiliation":[]},{"given":"Mariana","family":"Rodrigues","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Grangeia","sequence":"additional","affiliation":[]},{"given":"Iva","family":"Brito","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2023,5,24]]},"reference":[{"key":"831_CR1","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.abd.2019.04.009","volume":"95","author":"MLP Hon\u00f3rio","year":"2020","unstructured":"Hon\u00f3rio MLP, Bezerra GH, Costa VL. Complete form of pachydermoperiostosis. An Bras Dermatol. 2020;95:98\u2013101.","journal-title":"An Bras Dermatol"},{"key":"831_CR2","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1080\/01676830.2017.1383459","volume":"37","author":"D Doshi","year":"2018","unstructured":"Doshi D. Touraine-Solente-Gole syndrome. Orbit. 2018;37:97\u2013101.","journal-title":"Orbit"},{"key":"831_CR3","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1038\/ng.153","volume":"40","author":"S Uppal","year":"2008","unstructured":"Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Bonthron DT. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. 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Portuguese J Pediatr. 2022;53:604\u20139.","journal-title":"Portuguese J Pediatr"},{"issue":"11","key":"831_CR6","doi-asserted-by":"publisher","first-page":"2211","DOI":"10.3899\/jrheum.150364","volume":"42","author":"G Giancane","year":"2015","unstructured":"Giancane G, Diggle CP, Legger EG (7 more authors), et al. Primary hypertrophic osteoarthropathy: an update on patient features and treatment. J Rheumatol. 2015;42(11):2211\u20134.","journal-title":"J Rheumatol"},{"key":"831_CR7","doi-asserted-by":"crossref","unstructured":"Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H et al. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet. The American Society of Human Genetics; 2012 Jan 13;90(1):125 \u2013 32.","DOI":"10.1016\/j.ajhg.2011.11.019"},{"key":"831_CR8","doi-asserted-by":"crossref","unstructured":"G\u00f3mez Rodr\u00edguez N, Ib\u00e1\u00f1ez Ru\u00e1n J, Gonz\u00e1lez P\u00e9rez M. Osteoartropat\u00eda hipertr\u00f3fica primaria (paquidermoperiostosis). Aportaci\u00f3n de 2 casos familiares y revisi\u00f3n de la literatura. Reumatol Clin. 2009 Nov-Dec;5(6):259\u201363.","DOI":"10.1016\/j.reuma.2009.01.007"},{"key":"831_CR9","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1055\/s-0038-1653992","volume":"34","author":"D Taichao","year":"2018","unstructured":"Taichao D, Fuling L, Hengguang Z. Comprehensive surgical strategies for the management of pachydermoperiostosis. Facial Plast Surg. 2018;34:330\u20134.","journal-title":"Facial Plast Surg"}],"updated-by":[{"DOI":"10.1186\/s12969-023-00850-7","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T00:00:00Z","timestamp":1687737600000}}],"container-title":["Pediatric Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-023-00831-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12969-023-00831-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-023-00831-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T02:05:09Z","timestamp":1688609109000},"score":1,"resource":{"primary":{"URL":"https:\/\/ped-rheum.biomedcentral.com\/articles\/10.1186\/s12969-023-00831-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,24]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["831"],"URL":"https:\/\/doi.org\/10.1186\/s12969-023-00831-w","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-2722884\/v1","asserted-by":"object"}]},"ISSN":["1546-0096"],"issn-type":[{"value":"1546-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,24]]},"assertion":[{"value":"3 April 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 May 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 May 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 June 2023","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1186\/s12969-023-00850-7","URL":"https:\/\/doi.org\/10.1186\/s12969-023-00850-7","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Ethics approval, verbal informed assent and consent were obtained.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Publication consent was obtained from all participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"48"}}