Statements in which the resource exists as a subject.
PredicateObject
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0190-9622
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
367-71
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
Lipoid proteinosis with pseudomembranous conjunctivitis.
pubmed:publicationType
Journal Article, Case Reports