Lipoid proteinosis with pseudomembranous conjunctivitis.
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.
D002648:Child; D003231:Conjunctivitis / Q000209:etiology* / Q000601:surgery; D006685:Hoarseness / Q000209:etiology; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000150:complications*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications* / Q000473:pathology; D008297:Male