{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T14:05:05Z","timestamp":1758636305100,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Phakomatosis pigmentovascularis (PPV) is a rare sporadic genetic disorder characterised by co-occurrence of an extensive vascular nevus and a large pigmentary nevus with or without extracutaneous manifestations. There are four types of PPV with subtype \u2018a\u2019 for cutaneous involvement only and subtype \u2018b\u2019 for cutaneous and systemic involvement. PPV type IIa consists of nevus flammeus, Mongolian spots and sometimes nevus anemicus. Prognosis depends on associated systemic disorders. Two independent cases of PPV type IIb presented with nevus flammeus, aberrant Mongolian spots, ocular and central nervous system anomalies. Case 1 had external hydrocephalus previously unreported in PPV while case 2 had hydrocephalus exvacuo. Both patients had seizure disorder and neurodevelopmental delay. They were on long-term neurologic and ophthalmologic management while their cutaneous lesions partially regressed. PPV affects all racial and ethnic groups. The occurrence of external hydrocephalus in PPV expands the spectrum of its systemic manifestations.<\/jats:p>","DOI":"10.1136\/bcr.12.2011.5432","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T09:13:58Z","timestamp":1340788438000},"page":"bcr1220115432","source":"Crossref","is-referenced-by-count":5,"title":["Phakomatosis pigmentovascularis type IIB in association with external hydrocephalus"],"prefix":"10.1136","volume":"2012","author":[{"given":"Peter","family":"Okunola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Ofovwe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moses","family":"Abiodun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abiodun","family":"Isah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce","family":"Ikubor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,6,26]]},"reference":[{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.1","first-page":"1","article-title":"Phakomatosis pigmentovascularis","volume":"52","author":"Ota","year":"1947","journal-title":"Jpn J Dermatol"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.2","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1111\/j.1346-8138.2003.tb00403.x","article-title":"Phakomatosis pigmentovascularis II A and II B: clinical findings in 24 patients","volume":"30","author":"Vidaurri-de la Cruz","year":"2003","journal-title":"J Dermatol"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.3","first-page":"178","article-title":"A variant of phakomatosis pigmentovascularis","volume":"21","author":"Hasegawa","year":"1979","journal-title":"Skin Res"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.4","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.3.385"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<336::AID-AJMG26>3.0.CO;2-L"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(97)70169-5"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.7","doi-asserted-by":"publisher","DOI":"10.1159\/000018169"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.8","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.148.6.1223"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.9","unstructured":"Chapman PH . External hydrocephalus. Concepts Pediatr Neurosurg 1983;4:102\u201318."},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.10","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1542\/peds.77.6.901","article-title":"Idiopathic external hydrocephalus: natural history and relationship to benign familial macrocephaly.","volume":"77","author":"Alvarez","year":"1986","journal-title":"Pediatrics"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.11","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1981.54.4.0504"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.12","doi-asserted-by":"publisher","DOI":"10.1097\/01376517-198308000-00014"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.13","doi-asserted-by":"crossref","unstructured":"Hall BD Cadle RG Morrill-Cornelius SM . Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge\u2013Weber and Klippel\u2013Trenaunay syndromes. Am J Med Genet Part A 2008;146A:945\u201351.","DOI":"10.1002\/ajmg.a.32327"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.14","first-page":"66","article-title":"The Klippel-Trenaunay syndrome: a case report and review of the literature.","volume":"49","author":"Barek","year":"1982","journal-title":"Mt Sinai J Med"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.15","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2005.20.6.1082"},{"key":"2025082800492503000_2012.jun22_1.bcr1220115432.16","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.07798.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.12.2011.5432","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:49:36Z","timestamp":1756367376000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.12.2011.5432"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,26]]},"references-count":16,"alternative-id":["10.1136\/bcr.12.2011.5432"],"URL":"https:\/\/doi.org\/10.1136\/bcr.12.2011.5432","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2012,6,26]]}}}