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We report a male infant with junctional EB who died of Pseudomonas sepsis and was found at autopsy to have a clinically unrecognized cerebellar malignant rhabdoid tumor (MRT). This is the first reported case of an infant with EB and a coincident extracutaneous neoplasm. It is also the first known case of EB associated with a pathologically confirmed malignant brain tumor. Cytogenetic results from the infant and his tumor and both of his parents suggest the infant's EB and MRT were not genetically linked.<\/jats:p>","DOI":"10.2350\/06-12-0201.1","type":"journal-article","created":{"date-parts":[[2007,11,13]],"date-time":"2007-11-13T11:33:18Z","timestamp":1194953598000},"page":"481-486","source":"Crossref","is-referenced-by-count":7,"title":["Congenital Cerebellar Malignant Rhabdoid Tumor in an Infant with Junctional Epidermolysis Bullosa"],"prefix":"10.1177","volume":"10","author":[{"given":"Henry F.","family":"Krous","sequence":"first","affiliation":[{"name":"Department of Pathology, Rady Children's Hospital and Health Center, San Diego, CA, USA"},{"name":"Department of Pathology, University of California, San Diego School of Medicine, La Jolla, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy E.","family":"Chadwick","sequence":"additional","affiliation":[{"name":"Department of Pathology, Rady Children's Hospital and Health Center, San Diego, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth A.","family":"Haas","sequence":"additional","affiliation":[{"name":"Department of Pathology, Rady Children's Hospital and Health Center, San Diego, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Breisch","sequence":"additional","affiliation":[{"name":"Department of Pathology, Rady Children's Hospital and Health Center, San Diego, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Homeyra","family":"Masoumi","sequence":"additional","affiliation":[{"name":"Department of Pathology, Rady Children's Hospital and Health Center, San Diego, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2007,11,1]]},"reference":[{"key":"bibr1-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)38162-7"},{"key":"bibr2-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.2165\/00128071-200203060-00001"},{"key":"bibr3-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01660.x"},{"key":"bibr4-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2004.00968.x"},{"key":"bibr5-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818309025871"},{"key":"bibr6-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197401)33:1<198::AID-CNCR2820330129>3.0.CO;2-A"},{"key":"bibr7-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2003.05270.x"},{"key":"bibr8-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1974.01630120044009"},{"key":"bibr9-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1080\/000155501750376285"},{"key":"bibr10-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1991.tb02618.x"},{"key":"bibr11-06-12-0201.1","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1111\/j.1365-2133.1972.tb05101.x","volume":"87","author":"Almeyda J","year":"1972","journal-title":"Br J Dermatol"},{"key":"bibr12-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1524-4725.1981.tb00170.x"},{"key":"bibr13-06-12-0201.1","volume-title":"Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances, and the Findings of the National Epidermolysis Bullosa Registry","author":"Fine JD","year":"1999"},{"key":"bibr14-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1992.tb01352.x"},{"key":"bibr15-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2004.02119.x"},{"key":"bibr16-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00186.x"},{"key":"bibr17-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1086\/515524"},{"key":"bibr18-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00052.x"},{"key":"bibr19-06-12-0201.1","first-page":"352","volume":"60","author":"Gatalica B","year":"1997","journal-title":"Am J Hum Genet"},{"key":"bibr20-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.669"},{"key":"bibr21-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0191-y"},{"key":"bibr22-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198909283211317"},{"key":"bibr23-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.3800375"},{"key":"bibr24-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.3171\/foc.2006.20.1.12"},{"key":"bibr25-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205841"},{"key":"bibr26-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1524-4725.1999.99047.x"},{"key":"bibr27-06-12-0201.1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1998.02240.x"},{"key":"bibr28-06-12-0201.1","doi-asserted-by":"crossref","unstructured":"Yamauchi Y, Takahashi K, Shiotsu H. 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