{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:36:27Z","timestamp":1747182987443,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T00:00:00Z","timestamp":1709164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ajd.14235","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T17:23:28Z","timestamp":1709227408000},"page":"337-341","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cases with the H syndrome presenting with skin and bone findings"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5727-4075","authenticated-orcid":false,"given":"Hulya","family":"Kose","sequence":"first","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology Uludag University Faculty of Medicine  Bursa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-9406-7889","authenticated-orcid":false,"given":"Merve Deniz","family":"Baskaya","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology Uludag University Faculty of Medicine  Bursa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8571-2581","authenticated-orcid":false,"given":"Sara Sebnem","family":"Kilic","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Rheumatology Uludag University Faculty of Medicine  Bursa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,29]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.09.019"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-2255"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010020\u201000932\u20101"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s42000\u2010022\u201000352\u20103"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.109199"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/jfmpc.jfmpc_1435_21"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000495190"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2020.08.002"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1213682"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.04.077"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12969\u2010017\u20100204\u2010y"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/dth.14375"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabet.2013.03.007"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2006.117382"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/antiox12020373"}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.14235","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T06:43:28Z","timestamp":1717656208000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajd.14235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,29]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1111\/ajd.14235"],"URL":"https:\/\/doi.org\/10.1111\/ajd.14235","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"type":"print","value":"0004-8380"},{"type":"electronic","value":"1440-0960"}],"subject":[],"published":{"date-parts":[[2024,2,29]]},"assertion":[{"value":"2024-01-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}