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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Autores principales: Thaddanee, Rekha, Khilnani, Ajeet Kumar, Pandya, Purna, Chaturvedi, Mayank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290189/
https://www.ncbi.nlm.nih.gov/pubmed/25593816
http://dx.doi.org/10.4103/2229-5178.146168
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author Thaddanee, Rekha
Khilnani, Ajeet Kumar
Pandya, Purna
Chaturvedi, Mayank
author_facet Thaddanee, Rekha
Khilnani, Ajeet Kumar
Pandya, Purna
Chaturvedi, Mayank
author_sort Thaddanee, Rekha
collection PubMed
description 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.
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spelling pubmed-42901892015-01-15 Lipoid proteinosis (Urbach-Wiethe disease) in two siblings Thaddanee, Rekha Khilnani, Ajeet Kumar Pandya, Purna Chaturvedi, Mayank Indian Dermatol Online J Case Report 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. Medknow Publications & Media Pvt Ltd 2014-12 /pmc/articles/PMC4290189/ /pubmed/25593816 http://dx.doi.org/10.4103/2229-5178.146168 Text en Copyright: © Indian Dermatology Online Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Thaddanee, Rekha
Khilnani, Ajeet Kumar
Pandya, Purna
Chaturvedi, Mayank
Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
title Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
title_full Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
title_fullStr Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
title_full_unstemmed Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
title_short Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
title_sort lipoid proteinosis (urbach-wiethe disease) in two siblings
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290189/
https://www.ncbi.nlm.nih.gov/pubmed/25593816
http://dx.doi.org/10.4103/2229-5178.146168
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