Lipoid proteinosis: Report of four siblings and brief review of the literature

Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive di sorder associated with deposition of periodic acid-Schiff (PAS)-positive hy aline material ire various tissues including skin, mucous membranes, and in ternal organs. A family is reported in which four siblings (two boys and tw o girls) born to nonconsanguineous parents had lipoid proteinosis, All had the characteristic hoarseness of voice and three had skin lesions. The diag nosis was confirmed by the presence of typical features on light and electr on microscopy.