Linked Life Data

2096355

Source:http://linkedlifedata.com/resource/pubmed/id/2096355

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1991-7-17
pubmed:abstractText
The authors report on a ten-year-old boy with hypomelanosis of Ito. He suffered from epileptic seizures and exhibited typical generalized partial skin hypomelanosis in whorl-like and striated pattern following Blaschko's lines. The fundi showed patchy, mottled hypopigmentations becoming increasingly striated in the periphery with a general orientation to the optic nerve head. This pattern of affection reminds of the retinal findings in carrier women for X-linked ocular albinism. Magnetic resonance imaging revealed multiple small areas of increased relaxation time scattered in the white matter of the brain, which are interpreted as porencephalic cysts. These clinical findings suggest somatic cell mosaicism even though the cytogenetic study was not conclusive.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0167-6784
pubmed:author
pubmed:issnType
Print
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
273-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Hypomelanosis of Ito (incontinentia pigmenti achromians). Ophthalmological evidence for somatic mosaicism.
pubmed:affiliation
Institut für Humangenetik, University of Erlangen-Nürnberg, FRG.
pubmed:publicationType
Journal Article, Case Reports