Lipoid proteinosis

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions body, including skin, mucous membranes, brain, internal organs. LP caused mutations gene encoding extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this disease rare, it more reported areas where consanguineous marriages are common. During infancy, begins with hoarseness due to laryngeal infiltration. Gradually, skin and changes become clinically evident. The affected individuals have normal survey unless obstruction develops. A multidisciplinary approach recommended for monitoring these patients.