{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:34:28Z","timestamp":1745469268287,"version":"3.40.4"},"reference-count":11,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"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":[[2013]]},"abstract":"<b><i>Introduction:<\/i><\/b> Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the <i>CRLF1<\/i> gene, characterized by profuse sweating when the ambient temperature is below 22\u00b0C and morphological alterations. <i>CRLF1<\/i> mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. <b><i>Case Report:<\/i><\/b> A 30-year-old man sought treatment for profuse sweating. His medical record included neonatal admission for generalized hypertonicity. Clinical examination revealed morphological alterations. A genetic study was requested, detecting a c.713dupC mutation in homozygosity in the <i>CRLF1<\/i> gene. <b><i>Conclusions:<\/i><\/b> We report the case of a male with clinical and genetic diagnosis of CISS1 who in childhood presented clinical characteristics of CS. The mutation detected in <i>CRLF1<\/i> has not been described in patients with CISS1, but in one with CS. These data seem to support the theory that CS and CISS1 are variants of the same disorder.<\/jats:p>","DOI":"10.1159\/000351880","type":"journal-article","created":{"date-parts":[[2013,8,30]],"date-time":"2013-08-30T07:25:27Z","timestamp":1377847527000},"page":"126-129","source":"Crossref","is-referenced-by-count":6,"title":["Cold-Induced Sweating Syndrome Type 1, with a <b><i>CRLF1 <\/i><\/b>Level<b> <\/b>Mutation, Previously Associated with Crisponi Syndrome"],"prefix":"10.1159","volume":"227","author":[{"given":"D.","family":"Gonz\u00e1lez Fern\u00e1ndez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"L\u00e1zaro P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Santill\u00e1n Garz\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"\u00c1lvarez Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Encinas Madrazo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Fern\u00e1ndez Toral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"P\u00e9rez Oliva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,8,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)91805-6"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1086\/346120"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509598103"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1086\/516843"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2010.02.028"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.253"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33315"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2006.07.001"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f96237"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2012.08.011"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/351880","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/351880","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:31:13Z","timestamp":1745433073000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000351880"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2013,11,1]]},"published-print":{"date-parts":[[2013,11,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000351880","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"type":"print","value":"1018-8665"},{"type":"electronic","value":"1421-9832"}],"subject":[],"published":{"date-parts":[[2013]]}}}