Lipoid proteinosis in two Indian brothers - a case report from South Bengal

Lipoid proteinosis is a rare autosomal recessive disorder with variable phenotype, caused by defect in extracellular matrix protein-1 and is characterized by deposition of periodic acid- schiff-positive, diastase resistant material in skin, mucous membrane and internal organs. there are only few reports regarding lipoid proteinosis in literature and in this part of the world. here, we report a case of lipoid proteinosis in a 29-year-old male with positive family history and widespread distribution involving skin and internal organs. histopathological finding was consistent with clinical diagnosis of lipoid proteinosis.