Linked Life Data

2242783

Source:http://linkedlifedata.com/resource/pubmed/id/2242783

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1990-12-31
pubmed:abstractText
We report a clinicopathological observation concerning a man and his son affected by the same disease. The main cutaneous lesions included poikiloderma congenitale and generalized alopecia respecting the pubic area. These anomalies were associated with cleft palate and Robin sequence in the boy. The main histological changes consisted in a marked atrophy of hairs with persistence of sebaceous glands. In sun-exposed areas, we found colloid bodies, melanophages and hyperplasia of the elastic tissue network. Those features resembled those of the Rothmund-Thomson syndrome, but the phenotype and the apparent dominant mode of inheritance exclude this possibility. A new genodermatosis, related with, but distinct from the Rothmund-Thomson syndrome is suspected, for which the acronym PARC syndrome is proposed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0011-9075
pubmed:author
pubmed:issnType
Print
pubmed:volume
181
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
142-4
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?
pubmed:affiliation
Centre of Human Genetics, University of Liège, Belgium.
pubmed:publicationType
Journal Article, Case Reports