Linked Life Data

6783061

Source:http://linkedlifedata.com/resource/pubmed/id/6783061

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1981-6-25
pubmed:abstractText
An infant with GM1 gangliosidosis was found to have an eruption at birth consisting of extensive and unusual slate blue macules resembling mongolian spots. All areas of skin were involved except face, scalp, palms, and soles. A biopsy of a macule obtained at 5 months of age demonstrated melanocytic cells in the dermis consistent with monogolian spot but also a perivascular histiocytic infiltrate. At 8 months of age, absence of beta-galactosidase activity was documented in both peripheral leukocytes and skin fibroblasts confirming the diagnosis of GM1 gangliosidosis. The dermal histiocytic cells noted on skin biopsy were interpreted as a manifestation of this storage disease. The coexistence of the hyperpigmented lesions and the heritable enzyme defect was believed to be coincidental.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0007-0963
pubmed:author
pubmed:issnType
Print
pubmed:volume
104
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
195-200
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots.
pubmed:publicationType
Journal Article, Case Reports