{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:30:15Z","timestamp":1761708615751,"version":"3.40.4"},"reference-count":9,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"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":[[2010]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal dominant condition characterized by cutaneous leiomyomatosis in both sexes and uterine leiomyomas in women. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. &lt;i&gt;Methods:&lt;\/i&gt; We report an Italian family in which the finding of multiple cutaneous leiomyomas in the proband, a 46-year-old woman, led to the diagnosis of Reed\u2019s syndrome and to a general and genetic screening. &lt;i&gt;Results:&lt;\/i&gt; DNA sequencing in the proband disclosed a missense mutation designated p.Asp341Tyr that has not been reported previously. Interestingly, the patient\u2019s mother had a clear-cell-type renal cancer removed at the age of 57 years. &lt;i&gt;Conclusion:&lt;\/i&gt; Cutaneous leyomiomas are the clinical and histological clue leading to the diagnosis of MCUL or HLRCC. Dermatologists should be aware that a correct evaluation of a patient with cutaneous leiomyomas involves a complete medical and family history, physical examination and a genetic counseling.<\/jats:p>","DOI":"10.1159\/000321336","type":"journal-article","created":{"date-parts":[[2010,11,5]],"date-time":"2010-11-05T07:54:58Z","timestamp":1288943698000},"page":"378-380","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed\u2019s Syndrome)"],"prefix":"10.1159","volume":"221","author":[{"given":"F.","family":"Rongioletti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Fausti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Ferrando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Parodi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Mandich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Pasini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,11,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fng849"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.bpobgyn.2008.04.002"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fncponc0773"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2230.2005.01977.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.2005.06678.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159%2F000315068"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2230.2004.01675.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097%2FPAS.0b013e31804375b8"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.humpath.2006.10.011"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/321336","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/321336","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:58:38Z","timestamp":1745434718000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000321336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2010,12,1]]},"published-print":{"date-parts":[[2010,12,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000321336","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"type":"print","value":"1018-8665"},{"type":"electronic","value":"1421-9832"}],"subject":[],"published":{"date-parts":[[2010]]}}}