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

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 developed...

Full description

Bibliographic Details
Main Authors: Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca
Format: Article
Language:English
Published: Hindawi Limited 2011-01-01
Series:Case Reports in Hematology
Online Access:http://dx.doi.org/10.1155/2011/848461
id doaj-702d6399f14f4a749f59ace2e0536eb7
record_format Article
spelling doaj-702d6399f14f4a749f59ace2e0536eb72020-11-24T22:32:55ZengHindawi LimitedCase Reports in Hematology2090-65602090-65792011-01-01201110.1155/2011/848461848461Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?Claudio Fozza0Fausto Poddie1Salvatore Contini2Antonio Galleu3Francesca Cottoni4Maurizio Longinotti5Francesco Cucca6Institute of Hematology, University of Sassari, 07100 Sassari, ItalyInstitute of Medical Genetics, University of Sassari, 07100 Sassari, ItalyInstitute of Hematology, University of Sassari, 07100 Sassari, ItalyInstitute of Hematology, University of Sassari, 07100 Sassari, ItalyInstitute of Dermatology, University of Sassari, 07100 Sassari, ItalyInstitute of Hematology, University of Sassari, 07100 Sassari, ItalyInstitute of Medical Genetics, University of Sassari, 07100 Sassari, ItalyKeratitis-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.http://dx.doi.org/10.1155/2011/848461
collection DOAJ
language English
format Article
sources DOAJ
author Claudio Fozza
Fausto Poddie
Salvatore Contini
Antonio Galleu
Francesca Cottoni
Maurizio Longinotti
Francesco Cucca
spellingShingle Claudio Fozza
Fausto Poddie
Salvatore Contini
Antonio Galleu
Francesca Cottoni
Maurizio Longinotti
Francesco Cucca
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
Case Reports in Hematology
author_facet Claudio Fozza
Fausto Poddie
Salvatore Contini
Antonio Galleu
Francesca Cottoni
Maurizio Longinotti
Francesco Cucca
author_sort Claudio Fozza
title 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_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_sort keratitis-ichthyosis-deafness syndrome, atypical connexin gjb2 gene mutation, and peripheral t-cell lymphoma: more than a random association?
publisher Hindawi Limited
series Case Reports in Hematology
issn 2090-6560
2090-6579
publishDate 2011-01-01
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.
url http://dx.doi.org/10.1155/2011/848461
work_keys_str_mv AT claudiofozza keratitisichthyosisdeafnesssyndromeatypicalconnexingjb2genemutationandperipheraltcelllymphomamorethanarandomassociation
AT faustopoddie keratitisichthyosisdeafnesssyndromeatypicalconnexingjb2genemutationandperipheraltcelllymphomamorethanarandomassociation
AT salvatorecontini keratitisichthyosisdeafnesssyndromeatypicalconnexingjb2genemutationandperipheraltcelllymphomamorethanarandomassociation
AT antoniogalleu keratitisichthyosisdeafnesssyndromeatypicalconnexingjb2genemutationandperipheraltcelllymphomamorethanarandomassociation
AT francescacottoni keratitisichthyosisdeafnesssyndromeatypicalconnexingjb2genemutationandperipheraltcelllymphomamorethanarandomassociation
AT mauriziolonginotti keratitisichthyosisdeafnesssyndromeatypicalconnexingjb2genemutationandperipheraltcelllymphomamorethanarandomassociation
AT francescocucca keratitisichthyosisdeafnesssyndromeatypicalconnexingjb2genemutationandperipheraltcelllymphomamorethanarandomassociation
_version_ 1725731737259999232

Similar Items