{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T03:51:54Z","timestamp":1780545114377,"version":"3.54.1"},"reference-count":7,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,6,13]],"date-time":"2015-06-13T00:00:00Z","timestamp":1434153600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon. A 48\u2010year\u2010old man with parents of a consanguineous marriage, first appeared with decreased urine output, skin sclerosis on his inner thighs and short stature (142\u00a0cm, 47\u00a0kg). The patient had suffered from hearing loss since the age of 1\u00a0year, and his secondary sexual characteristics had not developed. Computed tomography showed periaortic fibrosis, bilateral ureteral stenosis, hydronephrosis and sclerosis of the germinal cords. A biopsy from the retroperitoneal mass revealed remarkable fibrosis with chronic inflammatory cells. Biopsies from the skin lesion showed thick collagen bundles through the dermis and lymphohistiocytic infiltration with numerous plasma cells. Serum inflammatory markers, such as C\u2010reactive protein, vascular endothelial factor, transforming growth factor\u2010\u03b2 and soluble interleukin\u20102 receptor, were elevated. Prednisolone was effective in treating skin lesions and in lowering serum inflammatory markers. After a long period of follow up, genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> of the patient was obtained, and we identified a homozygous mutation in exon 5, c.625G&gt;A, which caused transition of glycine to arginine, p.Gly208Arg, in the patient, but not in <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> samples from another 50 healthy individuals. This is the first case of H syndrome with Raynaud's phenomenon and retroperitoneal fibrosis, and the first Japanese case of H syndrome reported in the English published work with a novel mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>29A3<\/jats:italic> gene.<\/jats:p>","DOI":"10.1111\/1346-8138.12973","type":"journal-article","created":{"date-parts":[[2015,6,13]],"date-time":"2015-06-13T08:01:05Z","timestamp":1434182465000},"page":"1169-1171","source":"Crossref","is-referenced-by-count":17,"title":["Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the <i><scp>SLC<\/scp>29A3<\/i> gene"],"prefix":"10.1111","volume":"42","author":[{"given":"Etsuko","family":"Fujita","sequence":"first","affiliation":[{"name":"Department of Dermatology Jichi Medical University Shimotsuke Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayumi","family":"Komine","sequence":"additional","affiliation":[{"name":"Department of Dermatology Jichi Medical University Shimotsuke Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidetoshi","family":"Tsuda","sequence":"additional","affiliation":[{"name":"Department of Dermatology Jichi Medical University Shimotsuke Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akimasa","family":"Adachi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Jichi Medical University Shimotsuke Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Murata","sequence":"additional","affiliation":[{"name":"Department of Dermatology Jichi Medical University Shimotsuke Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuyuki","family":"Kamata","sequence":"additional","affiliation":[{"name":"Department of Allergy &amp; Rheumatology Jichi Medical University Shimotsuke Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Minota","sequence":"additional","affiliation":[{"name":"Department of Allergy &amp; Rheumatology Jichi Medical University Shimotsuke Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamitaro","family":"Ohtsuki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Jichi Medical University Shimotsuke Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.03.021"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.09.013"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2010.03.053"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000833"},{"key":"e_1_2_5_6_1","first-page":"1","article-title":"An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin\u2010dependent diabetes and Faisalabad histiocytosis","volume":"18","author":"Elbarbary NS","year":"2012","journal-title":"Pediatr Diabetes"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029708"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.09.019"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12973","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12973","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T20:18:21Z","timestamp":1695500301000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12973"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,13]]},"references-count":7,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1111\/1346-8138.12973"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12973","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,13]]}}}