Sporadic Kindler Syndrome with a novel mutation

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive...

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Detalles Bibliográficos
Autores principales: de Almeida Jr, Hiram Larangeira, Heckler, Gláucia Thomas, Fong, Kenneth, Lai-Cheong, Joey, McGrath, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875998/
https://www.ncbi.nlm.nih.gov/pubmed/24346923
http://dx.doi.org/10.1590/abd1806-4841.20132173
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author de Almeida Jr, Hiram Larangeira
Heckler, Gláucia Thomas
Fong, Kenneth
Lai-Cheong, Joey
McGrath, John
author_facet de Almeida Jr, Hiram Larangeira
Heckler, Gláucia Thomas
Fong, Kenneth
Lai-Cheong, Joey
McGrath, John
author_sort de Almeida Jr, Hiram Larangeira
collection PubMed
description We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.
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spelling pubmed-38759982014-01-08 Sporadic Kindler Syndrome with a novel mutation de Almeida Jr, Hiram Larangeira Heckler, Gláucia Thomas Fong, Kenneth Lai-Cheong, Joey McGrath, John An Bras Dermatol Case Report We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene. Sociedade Brasileira de Dermatologia 2013 /pmc/articles/PMC3875998/ /pubmed/24346923 http://dx.doi.org/10.1590/abd1806-4841.20132173 Text en ©2013 by Anais Brasileiros de Dermatologia http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
de Almeida Jr, Hiram Larangeira
Heckler, Gláucia Thomas
Fong, Kenneth
Lai-Cheong, Joey
McGrath, John
Sporadic Kindler Syndrome with a novel mutation
title Sporadic Kindler Syndrome with a novel mutation
title_full Sporadic Kindler Syndrome with a novel mutation
title_fullStr Sporadic Kindler Syndrome with a novel mutation
title_full_unstemmed Sporadic Kindler Syndrome with a novel mutation
title_short Sporadic Kindler Syndrome with a novel mutation
title_sort sporadic kindler syndrome with a novel mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875998/
https://www.ncbi.nlm.nih.gov/pubmed/24346923
http://dx.doi.org/10.1590/abd1806-4841.20132173
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AT laicheongjoey sporadickindlersyndromewithanovelmutation
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