{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T19:29:27Z","timestamp":1760470167528,"version":"3.40.5"},"reference-count":10,"publisher":"FapUNIFESP (SciELO)","issue":"6 suppl 1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["An. Bras. Dermatol."],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>A 34-year-old woman with no known medical history was evaluated for multiple painful brown nodules and papules on the anterior aspect of the trunk. She mentioned a history of similar cutaneous findings on her mother. Biopsies of three lesions revealed piloleiomyomata. Renal and adrenal ultrasound revealed an isolated simple cortical cyst, and pelvic and endovaginal ultrasound revealed two uterine myomata. The clinical diagnosis of hereditary leiomyomatosis and renal cell cancer was corroborated by the identification of a heterozygous variant on exon 5 of the fumarate hydratase gene (c.578C&gt;T p.T193I). Identification of the tumor piloleiomyoma should alert the dermatologist to this rare genodermatosis, which is associated with an increased risk of renal cell tumors, demanding multidisciplinary follow-up, and personal and family counseling.<\/jats:p>","DOI":"10.1590\/abd1806-4841.20132449","type":"journal-article","created":{"date-parts":[[2014,1,30]],"date-time":"2014-01-30T19:47:07Z","timestamp":1391111227000},"page":"124-127","source":"Crossref","is-referenced-by-count":5,"title":["Cutaneous leiomyomatosis in a mother and daughter"],"prefix":"10.1590","volume":"88","author":[{"given":"Andr\u00e9","family":"Lencastre","sequence":"first","affiliation":[{"name":"Centro Hospitalar de Lisboa Central, EPE, Portugal"}]},{"given":"Joana","family":"Cabete","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Lisboa Central, EPE, Portugal"}]},{"given":"Rui","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Lisboa Central, EPE, Portugal"}]},{"given":"Alexandre","family":"Jo\u00e3o","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Lisboa Central, EPE, Portugal"}]},{"given":"Ana","family":"Fidalgo","sequence":"additional","affiliation":[{"name":"Centro Hospitalar de Lisboa Central, EPE, Portugal"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10689-011-9428-z","article-title":"Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics","volume":"10","author":"Lehtonen HJ","year":"2011","journal-title":"Fam Cancer"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1086\/320124","article-title":"Localization of a Gene (MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromossome 1q42.3-q43","volume":"68","author":"Alam NA","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1684\/ejd.2009.0749","article-title":"Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis","volume":"19","author":"Badeloe S","year":"2009","journal-title":"Eur J Dermatol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/ng849","article-title":"Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer","volume":"30","author":"Tomlinson IP","year":"2002","journal-title":"Nat Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"27","DOI":"10.5826\/dpc.0204a06","article-title":"Dermoscopic findings in a patient with multiple pioleiomyomas","volume":"2","author":"Paschoal F","year":"2012","journal-title":"Dermatol Pract Concept"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"S144","DOI":"10.5021\/ad.2011.23.S2.S144","article-title":"Giant piloleiomyoma of the forehead","volume":"23","author":"Kim GW","year":"2011","journal-title":"Ann Dermatol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1590\/S0365-05962007000200013","article-title":"Caso para diagn\u00f3stico. Piloleiomioma m\u00faltiplo","volume":"82","author":"Suzuki H","year":"2007","journal-title":"An Bras Dermatol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/S0002-9440(10)61757-9","article-title":"Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology","volume":"159","author":"Kiuru M","year":"2001","journal-title":"Am J Pathol"},{"key":"ref9","first-page":"59","article-title":"Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis","volume":"79","author":"Smit DL","year":"2011","journal-title":"Clin Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s10689-011-9491-5","article-title":"Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of ageimplications for surveillance","volume":"11","author":"van Spaendonck-Zwarts KY","year":"2012","journal-title":"Fam Cancer"}],"container-title":["Anais Brasileiros de Dermatologia"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/abd\/v88n6s1\/0365-0596-abd-88-06-s1-0124.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T15:00:41Z","timestamp":1747666841000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0365-05962013000800124&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":10,"journal-issue":{"issue":"6 suppl 1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0365-05962013000800124"],"URL":"https:\/\/doi.org\/10.1590\/abd1806-4841.20132449","relation":{},"ISSN":["0365-0596"],"issn-type":[{"type":"electronic","value":"0365-0596"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}