{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:49:40Z","timestamp":1790833780928,"version":"4.1.0"},"reference-count":3,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[1998,1,1]],"date-time":"1998-01-01T00:00:00Z","timestamp":883612800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[1998,1,1]],"date-time":"1998-01-01T00:00:00Z","timestamp":883612800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[1998]]},"abstract":"<jats:p>The Rothmund-Thomson syndrome is a rare syndrome which is believed to be inherited in an autosomal pattern. Poikiloderma of the face and extremities is a characteristic feature. Besides this, less common aspects have been reported like alopecia, cataracts, short stature, musculoskeletal\/bone defects or small hands, hypogonadism, abnormal teeth, dysplastic nails, anhidrosis and a high incidence of cutaneous and non-cutaneous malignancies. We present a patient with the Rothmund-Thomson syndrome together with anhidrosis and multiple infections of the upper and lower respiratory tract. Investigation of immunological function revealed a low total number of T lymphocytes with a slightly depressed reactivity. Immunoglobulins were markedly increased.<\/jats:p>","DOI":"10.1159\/000017888","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T17:25:18Z","timestamp":1050427518000},"page":"260-263","source":"Crossref","is-referenced-by-count":13,"title":["A Female Patient with the Rothmund-Thomson Syndrome Associated with Anhidrosis and Severe Infections of the Respiratory Tract"],"prefix":"10.1159","volume":"196","author":[{"given":"D.G.C.T.M.","family":"Snels","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.N.","family":"Bouwes Bavinck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Muller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.J.","family":"Vermeer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[1998,3,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.114.3.457"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-911X(199606)26:6<414::AID-MPO8>3.3.CO;2-G"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.129.3.332"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/17888","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/17888","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:52:57Z","timestamp":1745470377000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000017888"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998]]},"references-count":3,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1998,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000017888","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998]]}}}