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