Lipoid proteinosis: A rare congenital genodermatosis

Abstract

Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the skin, mucosa, and viscera. Fewer than 300 cases have been reported in the literature till date. Characteristic skin lesions include multiple brown atrophic scars over the face and distal extremities, beaded papules over the margins of the eyelids, and verrucous nodules over the friction bearing areas such as elbows, knees, and buttocks. The overall prognosis is good. There is no definitive treatment. We present a case of this rare disorder with relevant review of the literature.