Lipoid proteinosis (Urbach-Wiethe disease) in two siblings

Indian Dermatol Online J. 2014 Dec;5(Suppl 2):S95-7. doi: 10.4103/2229-5178.146168.


Lipoid proteinosis is a very rare autosomal recessive disorder characterized by deposition of hyaline material in the skin and the upper aerodigestive tract. Hoarseness of voice occurs very early in life and airway obstruction may occur. Characteristic skin lesions include multiple brown atrophic scars over face and distal extremities, beaded papules over the margins of the eyelids and verrucous nodules over the friction bearing areas (elbows, knees). The overall prognosis is good. There is no definitive treatment.

Keywords: Autosomal recessive disease; Urbach-Wiethe disease; hyalinosis cutis et mucosae; lipoid proteinosis.

Publication types

  • Case Reports