{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T12:50:57Z","timestamp":1784638257273,"version":"3.55.0"},"reference-count":15,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["PED"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:p>The authors report a case of choroid plexus papilloma in a girl with hypomelanosis of Ito, and they review the literature in brief. Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by cutaneous hypopigmented whorls, streaks, and patches along lines of Blaschko. Most patients exhibit CNS manifestations, including psychomotor retardation, seizures, hypotonia, and ataxia. A 6-year-old girl with hypomelanosis of Ito was referred to the authors' hospital with bilateral tumors in the lateral ventricles. The right lateral ventricle tumor was surgically removed. Immunohistochemical investigations revealed the tumor to be a choroid plexus papilloma (WHO Grade I). A chromosomal investigation revealed that the tumor tissue demonstrated a large loss of heterozygosity at chromosome 10. The case reported here serves as a reminder that de novo brain tumors may arise in patients with chromosomal mosaicism.<\/jats:p>","DOI":"10.3171\/2012.5.peds11556","type":"journal-article","created":{"date-parts":[[2012,7,14]],"date-time":"2012-07-14T04:59:20Z","timestamp":1342241960000},"page":"182-185","source":"Crossref","is-referenced-by-count":7,"title":["Choroid plexus papilloma in a girl with hypomelanosis of Ito"],"prefix":"10.3171","volume":"10","author":[{"given":"Ryoma","family":"Morigaki","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Institute of Health Biosciences, University of Tokushima; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyong-Hon","family":"Pooh","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Shouno","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidekazu","family":"Taniguchi","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shouichi","family":"Endo","sequence":"additional","affiliation":[{"name":"Neurology, National Hospital Organization, Kagawa Children's Hospital, Kagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinobu","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Departments of Neurosurgery and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1-PEDS11556","series-title":"J Pediatr (Rio J)","doi-asserted-by":"publisher","first-page":"59","DOI":"10.2223\/JPED.114","article-title":"[Hypomelanosis of Ito - case report.]","volume":"77","author":"Almeida","year":"2001"},{"key":"b2-PEDS11556","series-title":"Oncogene","doi-asserted-by":"publisher","first-page":"5416","DOI":"10.1038\/onc.2008.239","article-title":"PTEN signaling in brain: neuropathology and tumorigenesis","volume":"27","author":"Endersby","year":"2008"},{"key":"b3-PEDS11556","series-title":"J Am Acad Dermatol","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/S0190-9622(99)70042-3","article-title":"Loss of heterozygosity in human skin","volume":"41","author":"Happle","year":"1999"},{"key":"b4-PEDS11556","series-title":"Fam Cancer","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1023\/A:1025713815924","article-title":"Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases","volume":"2","author":"Hendriks","year":"2003"},{"key":"b5-PEDS11556","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<346::AID-AJMG7>3.0.CO;2-1","article-title":"Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism","volume":"85","author":"K\u00fcster","year":"1999"},{"key":"b6-PEDS11556","series-title":"Brain Dev","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/S0387-7604(97)00097-1","article-title":"Hypomelanosis of ITO. A study of 76 infantile cases","volume":"20","author":"Pascual-Castroviejo","year":"1998"},{"key":"b7-PEDS11556","series-title":"Am J Pathol","doi-asserted-by":"publisher","first-page":"1105","DOI":"10.1016\/S0002-9440(10)64931-0","article-title":"Chromosomal imbalances in choroid plexus tumors","volume":"160","author":"Rickert","year":"2002"},{"key":"b8-PEDS11556","series-title":"J Child Neurol","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1177\/088307380001501001","article-title":"Hypomelanosis of Ito: clinical syndrome or just phenotype?","volume":"15","author":"Ruggieri","year":"2000"},{"key":"b9-PEDS11556","series-title":"Hum Genet","first-page":"611","article-title":"Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)","volume":"90","author":"Steichen-Gersdorf","year":"1993"},{"key":"b10-PEDS11556","series-title":"Pediatr Radiol","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1007\/BF01396196","article-title":"Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review","volume":"26","author":"Steiner","year":"1996"},{"key":"b11-PEDS11556","series-title":"Pediatr Dermatol","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1111\/j.1525-1470.1990.tb01079.x","article-title":"Hypomelanosis of Ito","volume":"7","author":"Sybert","year":"1990"},{"key":"b12-PEDS11556","series-title":"Br J Dermatol","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1111\/j.1365-2133.2004.06057.x","article-title":"Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes","volume":"151","author":"Taibjee","year":"2004"},{"key":"b13-PEDS11556","series-title":"Dev Neurosci","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1159\/000109852","article-title":"Function of PTEN during the formation and maintenance of neuronal circuits in the brain","volume":"30","author":"van Diepen","year":"2008"},{"key":"b14-PEDS11556","series-title":"Arch Pathol Lab Med","doi-asserted-by":"publisher","first-page":"762","DOI":"10.5858\/2000-124-0762-PMRIAC","article-title":"Primary meningeal rhabdomyosarcoma in a child with hypomelanosis of Ito","volume":"124","author":"Xu","year":"2000"},{"key":"b15-PEDS11556","series-title":"Eur J Hum Genet","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1159\/000484735","article-title":"Characterisation of X;17(q12;p13) translocation breakpoints in a female patient with hypomelanosis of Ito and choroid plexus papilloma","volume":"5","author":"Zajac","year":"1997"}],"container-title":["Journal of Neurosurgery: Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/10\/3\/article-p182.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/10\/3\/article-p182.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/10\/3\/article-p182.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,15]],"date-time":"2023-04-15T14:37:12Z","timestamp":1681569432000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/10\/3\/article-p182.xml"}},"subtitle":["Case report"],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":15,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.3171\/2012.5.peds11556","relation":{},"ISSN":["1933-0707","1933-0715"],"issn-type":[{"value":"1933-0707","type":"print"},{"value":"1933-0715","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9]]}}}