Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and develo...

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Autores principales: Fozza, Claudio, Poddie, Fausto, Contini, Salvatore, Galleu, Antonio, Cottoni, Francesca, Longinotti, Maurizio, Cucca, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420635/
https://www.ncbi.nlm.nih.gov/pubmed/22937313
http://dx.doi.org/10.1155/2011/848461
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author Fozza, Claudio
Poddie, Fausto
Contini, Salvatore
Galleu, Antonio
Cottoni, Francesca
Longinotti, Maurizio
Cucca, Francesco
author_facet Fozza, Claudio
Poddie, Fausto
Contini, Salvatore
Galleu, Antonio
Cottoni, Francesca
Longinotti, Maurizio
Cucca, Francesco
author_sort Fozza, Claudio
collection PubMed
description Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and developed a T-cell lymphoma so far never described in this group of patients.
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spelling pubmed-34206352012-08-30 Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? Fozza, Claudio Poddie, Fausto Contini, Salvatore Galleu, Antonio Cottoni, Francesca Longinotti, Maurizio Cucca, Francesco Case Rep Hematol Case Report Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and developed a T-cell lymphoma so far never described in this group of patients. Hindawi Publishing Corporation 2011 2011-08-10 /pmc/articles/PMC3420635/ /pubmed/22937313 http://dx.doi.org/10.1155/2011/848461 Text en Copyright © 2011 Claudio Fozza et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Fozza, Claudio
Poddie, Fausto
Contini, Salvatore
Galleu, Antonio
Cottoni, Francesca
Longinotti, Maurizio
Cucca, Francesco
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
title Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
title_full Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
title_fullStr Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
title_full_unstemmed Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
title_short Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
title_sort keratitis-ichthyosis-deafness syndrome, atypical connexin gjb2 gene mutation, and peripheral t-cell lymphoma: more than a random association?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420635/
https://www.ncbi.nlm.nih.gov/pubmed/22937313
http://dx.doi.org/10.1155/2011/848461
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