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.