Abstract
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by infiltration of periodic acid schiff (PAS)-positive diastase-resistant hyaline material in the skin, oral cavity, and larynx caused by a mutation in the extracellular matrix 1 gene. Clinically characterized by beaded eyelid papules, waxy papules, nodules, plaques, and acneiform pock-like scars over the face and body. We report a case of LP, with involvement of the skin, eyes, brain, oral mucosa, and larynx, histopathologically confirmed by PAS-positive and diastase-resistant deposition in the dermis. The patient showed good response in skin lesions and quality of speech with 6-month of therapy of acitretin 0.5 mg/kg/day and followed up for 1 year without recurrences. As there is no curative and specific therapy for LP, acitretin is a very useful drug in improving quality of life, speech, and cosmetic appearance.
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