Linked Life Data

17937434

Source:http://linkedlifedata.com/resource/pubmed/id/17937434

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
24
pubmed:dateCreated
2007-12-6
pubmed:abstractText
In 1947 the term phakomatosis pigmentovascularis (PPV) was coined to represent the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. Four types of PPV have been recognized with type II (nevus flammeus and Mongolian spots) being the most common. Most early cases were of Asian or African descent. Many cases were subsequently associated with Sturge-Weber (S-W) and Klippel-Trenaunay (K-T) syndromes. Almost no literature reports have appeared in the genetic or dysmorphology literature! We present six cases of PPV in which five were either African, Asian or Hispanic, and five of six had an admixture of K-T and S-W. Four had macrocephaly, and one had microcephaly. Four had CNS abnormalities (three with hydrocephalus, one with Arnold-Chiari and one with polymicrogyria), three had mental retardation, and one had seizures. One each had thumb hypoplasia, hydronephrosis, glaucoma, coronal synostosis, and 3-4 finger syndactyly. It is our suspicion and hypothesis that in the presence of persistent, extensive and aberrant Mongolian spots, vascular abnormalities as are seen in K-T and S-W carry a worse prognosis. This may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
(c) 2007 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
143A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3047-53
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes.
pubmed:affiliation
Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA. bdelhall@insightbb.com
pubmed:publicationType
Journal Article, Case Reports