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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2 Pt 2
|
pubmed:dateCreated |
1986-4-3
|
pubmed:abstractText |
Lipoid proteinosis is a rare autosomal recessive condition characterized by a diffuse mucocutaneous infiltration with histopathologic deposits that are positive for periodic acid-Schiff reagent and a sudanophil substance. We present a 9-year-old boy with lipoid proteinosis. His parents are siblings. He had classical manifestations, such as statural-ponderal delay, hoarseness, yellowish skin papules, atrophic scars, and moniliform blepharosis. A transmission deafness was also found. There were none of the intracranial calcifications that are usual at this age. A pseudomembranous conjunctivitis was surgically treated when he was 4 months old. This clinical manifestation has not hitherto been described in lipoid proteinosis.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Feb
|
pubmed:issn |
0190-9622
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
14
|
pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
367-71
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:3950140-Child,
pubmed-meshheading:3950140-Conjunctivitis,
pubmed-meshheading:3950140-Hoarseness,
pubmed-meshheading:3950140-Humans,
pubmed-meshheading:3950140-Infant,
pubmed-meshheading:3950140-Lipidoses,
pubmed-meshheading:3950140-Lipoid Proteinosis of Urbach and Wiethe,
pubmed-meshheading:3950140-Male
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pubmed:year |
1986
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pubmed:articleTitle |
Lipoid proteinosis with pseudomembranous conjunctivitis.
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pubmed:publicationType |
Journal Article,
Case Reports
|