Linked Life Data

8276592

Source:http://linkedlifedata.com/resource/pubmed/id/8276592

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1994-2-10
pubmed:abstractText
Bloch-Sulzberger incontinentia pigmenti (IP) is a rare X-linked neuroectodermal syndrome. Over 97% of the patients are female. We report on a male baby who developed blisters in linear groups or bands shortly after birth. When the child was 3 months old the blisters were followed by verrucous papules, which cleared after 1 year leaving areas of brownish grey hyperpigmentation. In addition to the skin involvement, our patient showed central motor dysfunction on the right side of the body and also dental and ocular anomalies. Both parents were in good health. Chromosome analysis yielded a normal karyotype (46, XY). The genes for coagulation factor VIII and biglycan in the Xq28 region were not deleted. The presence of the disease in this male infant may be due to an early somatic mutation or a half-chromatid mutation. A further possibility is mosaic expression of an unstable premutation. This model offers a good explanation for the reports in the literature of transmission of the disease from mother to son.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0017-8470
pubmed:author
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
726-30
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
[Incontinentia pigmenti in a male infant].
pubmed:affiliation
Universitäts-Hautklinik Münster.
pubmed:publicationType
Journal Article, English Abstract, Case Reports