lipoid proteinosis

an autosomal recessive disorder of lipid metabolism due to mutation in the ECM1 gene (locus: 1q21), which encodes extracellular matrix protein 1; it is characterized by hyaline deposits in the skin and mucosa of the mouth, pharynx, hypopharynx, and larynx, resulting in hoarseness, often from birth, due to infiltration of the vocal cords. Skin lesions begin with recurrent pustules or bullae on the face and distal parts of the limbs, which heal and leave white varioliform scars; later there may be waxy white or yellow papules, nodules, or verrucoid plaques primarily on the face, eyelids, nape, hands, fingers, elbows, and knees. Called also hyalinosis cutis et mucosae, lipoproteinosis, and Urbach-Wiethe disease.