Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-1-24
pubmed:abstractText
We report a case of Costello syndrome. A 2-year-old Japanese boy presented with a 'coarse' face, curly hair and loose skin of the dorsal aspect of the hands and feet with dark pigmentation. A skin biopsy of the dorsal aspect of the left hand revealed hyperkeratosis and papillomatosis of the epidermis, hyperpigmentation of the basal layer, and shortening and rupture of elastic fibers of the dermis. Electron microscopy of dermal elastic fibers showed a decreased amount of elastin with an exposed appearance of microfibrils. In Northern blot analysis of cultured dermal fibroblasts, elastin mRNA levels were reduced, suggesting a decrease in elastin production at the lesions of loose skin.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1018-8665
pubmed:author
pubmed:copyrightInfo
Copyright 2000 S. Karger AG, Basel
pubmed:issnType
Print
pubmed:volume
201
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
366-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts.
pubmed:affiliation
Department of Dermatology, Chiba University School of Medicine, Chiba, Japan. hatamo@derma01.m.chiba-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports