Lipoid proteinosis (Urbach-Wiethe disease) in two siblings

• Main Authors: Rekha Thaddanee, Ajeet Kumar Khilnani, Purna Pandya, Mayank Chaturvedi
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2014-01-01
• Series: Indian Dermatology Online Journal
• Subjects: Autosomal recessive disease; hyalinosis cutis et mucosae; lipoid proteinosis; Urbach-Wiethe disease
• Online Access: http://www.idoj.in/article.asp?issn=2229-5178;year=2014;volume=5;issue=6;spage=95;epage=97;aulast=Thaddanee

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.