Lipoid proteinosis in a six-year-old child

Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body a...

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Detalles Bibliográficos
Autores principales: Nayak, Surajit, Acharjya, Basanti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481908/
https://www.ncbi.nlm.nih.gov/pubmed/23130256
http://dx.doi.org/10.4103/2229-5178.93490
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author Nayak, Surajit
Acharjya, Basanti
author_facet Nayak, Surajit
Acharjya, Basanti
author_sort Nayak, Surajit
collection PubMed
description Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We report here a 6-year-old female child with LiP, who presented to our OPD for recurrent vesicullobullous lesions and beaded lesions over eyelid margins.
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spelling pubmed-34819082012-11-05 Lipoid proteinosis in a six-year-old child Nayak, Surajit Acharjya, Basanti Indian Dermatol Online J Case Report Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We report here a 6-year-old female child with LiP, who presented to our OPD for recurrent vesicullobullous lesions and beaded lesions over eyelid margins. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3481908/ /pubmed/23130256 http://dx.doi.org/10.4103/2229-5178.93490 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
Nayak, Surajit
Acharjya, Basanti
Lipoid proteinosis in a six-year-old child
title Lipoid proteinosis in a six-year-old child
title_full Lipoid proteinosis in a six-year-old child
title_fullStr Lipoid proteinosis in a six-year-old child
title_full_unstemmed Lipoid proteinosis in a six-year-old child
title_short Lipoid proteinosis in a six-year-old child
title_sort lipoid proteinosis in a six-year-old child
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481908/
https://www.ncbi.nlm.nih.gov/pubmed/23130256
http://dx.doi.org/10.4103/2229-5178.93490
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