Lipoid proteinosis (Urbach-Wiethe disease) in two siblings

Autor: Rekha Thaddanee, Ajeet Kumar Khilnani, Purna Pandya, Mayank Chaturvedi
Jazyk: angličtina
Rok vydání: 2014
Předmět:
Zdroj: Indian Dermatology Online Journal, Vol 5, Iss 6, Pp 95-97 (2014)
Druh dokumentu: article
ISSN: 2229-5178
DOI: 10.4103/2229-5178.146168
Popis: 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.
Databáze: Directory of Open Access Journals