Abstract:
: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.
journal_name
J Am Acad Dermatoljournal_title
Journal of the American Academy of Dermatologyauthors
Barthelemy H,Mauduit G,Kanitakis J,Cambazard F,Thivolet Jdoi
10.1016/s0190-9622(86)70045-5subject
Has Abstractpub_date
1986-02-01 00:00:00pages
367-71issue
2 Pt 2eissn
0190-9622issn
1097-6787pii
S0190-9622(86)70045-5journal_volume
14pub_type
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journal_title:Journal of the American Academy of Dermatology
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更新日期:2000-04-01 00:00:00