Phakomatosis pigmentovascularis type IIB in association with external hydrocephalus
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 ‘a’ for cutaneous involvement only and subtype...
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| Veröffentlicht in: | BMJ case reports 2012-06, Vol.2012 (jun22 1), p.bcr1220115432-bcr1220115432 |
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| creator | Okunola, Peter Ofovwe, Gabriel Abiodun, Moses Isah, Abiodun Ikubor, Joyce |
| description | 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 ‘a’ for cutaneous involvement only and subtype ‘b’ 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. |
| doi_str_mv | 10.1136/bcr.12.2011.5432 |
| format | Article |
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There are four types of PPV with subtype ‘a’ for cutaneous involvement only and subtype ‘b’ 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.</description><identifier>ISSN: 1757-790X</identifier><identifier>EISSN: 1757-790X</identifier><identifier>DOI: 10.1136/bcr.12.2011.5432</identifier><identifier>PMID: 22736785</identifier><language>eng</language><publisher>England: BMJ Publishing Group LTD</publisher><subject>12 Months ; Africa ; Age ; Black ; Calcification ; Defects ; Female ; Glaucoma ; Humans ; Hydrocephalus - complications ; Hydrocephalus - diagnostic imaging ; Infant ; Infant, Newborn ; Male ; Medical imaging ; Megalencephaly - complications ; Mongolian Spot - complications ; Neurocutaneous Syndromes - complications ; Patients ; Pigmentation Disorders - complications ; Port-Wine Stain - complications ; Radiography ; Rare Disease ; Seizures - complications</subject><ispartof>BMJ case reports, 2012-06, Vol.2012 (jun22 1), p.bcr1220115432-bcr1220115432</ispartof><rights>2012 BMJ Publishing Group Ltd</rights><rights>Copyright: 2012 2012 BMJ Publishing Group Ltd</rights><rights>2012 BMJ Publishing Group Ltd 2012</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b4452-25f6f13a35f7837d6ca7b212ab6a06350f8e65b8eddb44c1398c7dfdfb83c93c3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448352/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448352/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27922,27923,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22736785$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Okunola, Peter</creatorcontrib><creatorcontrib>Ofovwe, Gabriel</creatorcontrib><creatorcontrib>Abiodun, Moses</creatorcontrib><creatorcontrib>Isah, Abiodun</creatorcontrib><creatorcontrib>Ikubor, Joyce</creatorcontrib><title>Phakomatosis pigmentovascularis type IIB in association with external hydrocephalus</title><title>BMJ case reports</title><addtitle>BMJ Case Rep</addtitle><description>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. 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The occurrence of external hydrocephalus in PPV expands the spectrum of its systemic manifestations.</description><subject>12 Months</subject><subject>Africa</subject><subject>Age</subject><subject>Black</subject><subject>Calcification</subject><subject>Defects</subject><subject>Female</subject><subject>Glaucoma</subject><subject>Humans</subject><subject>Hydrocephalus - complications</subject><subject>Hydrocephalus - diagnostic imaging</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical imaging</subject><subject>Megalencephaly - complications</subject><subject>Mongolian Spot - complications</subject><subject>Neurocutaneous Syndromes - complications</subject><subject>Patients</subject><subject>Pigmentation Disorders - complications</subject><subject>Port-Wine Stain - complications</subject><subject>Radiography</subject><subject>Rare Disease</subject><subject>Seizures - complications</subject><issn>1757-790X</issn><issn>1757-790X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkc1LwzAYxoMoKnN3T1LwIshmPpqmuwg6_BgICip4C2_T1Ga2TU1adf-9GZuiXswlIfk9D8-bB6F9gseEsOQkU25M6JhiQsY8ZnQD7RLBxUhM8NPmj_MOGno_x2ExEqcx20Y7lAqWiJTvovu7El5sDZ31xketea5109k38KqvwIWrbtHqaDY7j0wTgfdWGeiMbaJ305WR_ui0a6CKykXurNJtCVXv99BWAZXXw_U-QI-XFw_T69HN7dVsenYzyuKY0xHlRVIQBowXImUiTxSIjBIKWQI4YRwXqU54luo8DwJF2CRVIi_yIkuZmjDFBuh05dv2Wa1zFZI7qGTrTA1uIS0Y-fulMaV8tm-SxXHKOA0GR2sDZ1977TtZG690VUGjbe8lwZRyPhHh0wbo8A86t_1y9ECF9FQkMROBwitKOeu908V3GILlsjQZSpOEymVpcllakBz8HOJb8FVRAI5XQFbP_7f7BFLqojk</recordid><startdate>20120625</startdate><enddate>20120625</enddate><creator>Okunola, Peter</creator><creator>Ofovwe, Gabriel</creator><creator>Abiodun, Moses</creator><creator>Isah, Abiodun</creator><creator>Ikubor, Joyce</creator><general>BMJ Publishing Group LTD</general><general>BMJ Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20120625</creationdate><title>Phakomatosis pigmentovascularis type IIB in association with external hydrocephalus</title><author>Okunola, Peter ; 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| subjects | 12 Months Africa Age Black Calcification Defects Female Glaucoma Humans Hydrocephalus - complications Hydrocephalus - diagnostic imaging Infant Infant, Newborn Male Medical imaging Megalencephaly - complications Mongolian Spot - complications Neurocutaneous Syndromes - complications Patients Pigmentation Disorders - complications Port-Wine Stain - complications Radiography Rare Disease Seizures - complications |
| title | Phakomatosis pigmentovascularis type IIB in association with external hydrocephalus |
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