Lipoid proteinosis (Urbach-Wiethe disease) in two siblings

Lipoid proteinosis (Urbach-Wiethe disease) in two siblings

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 sc...

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Bibliographic Details
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
Description
Summary: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.
ISSN:2229-5178

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