Cargando…

A novel keratin 13 variant in a four‐generation family with white sponge nevus

We report a novel KRT13 germ line variant that causes white sponge nevus (WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous ce...

Descripción completa

Detalles Bibliográficos
Autores principales: de Haseth, Stephanie B., Bakker, Egbert, Vermeer, Maarten H., el Idrissi, Hakima, Bosse, Tjalling, Smit, Vincent T.H.B.M., Terron‐Kwiatkowski, Anna, McLean, W.H. Irwin, Peters, Alexander A.W., Hes, Frederik J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582238/
https://www.ncbi.nlm.nih.gov/pubmed/28878914
http://dx.doi.org/10.1002/ccr3.1073
_version_ 1783261148062154752
author de Haseth, Stephanie B.
Bakker, Egbert
Vermeer, Maarten H.
el Idrissi, Hakima
Bosse, Tjalling
Smit, Vincent T.H.B.M.
Terron‐Kwiatkowski, Anna
McLean, W.H. Irwin
Peters, Alexander A.W.
Hes, Frederik J.
author_facet de Haseth, Stephanie B.
Bakker, Egbert
Vermeer, Maarten H.
el Idrissi, Hakima
Bosse, Tjalling
Smit, Vincent T.H.B.M.
Terron‐Kwiatkowski, Anna
McLean, W.H. Irwin
Peters, Alexander A.W.
Hes, Frederik J.
author_sort de Haseth, Stephanie B.
collection PubMed
description We report a novel KRT13 germ line variant that causes white sponge nevus (WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma.
format Online
Article
Text
id pubmed-5582238
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-55822382017-09-06 A novel keratin 13 variant in a four‐generation family with white sponge nevus de Haseth, Stephanie B. Bakker, Egbert Vermeer, Maarten H. el Idrissi, Hakima Bosse, Tjalling Smit, Vincent T.H.B.M. Terron‐Kwiatkowski, Anna McLean, W.H. Irwin Peters, Alexander A.W. Hes, Frederik J. Clin Case Rep Case Reports We report a novel KRT13 germ line variant that causes white sponge nevus (WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma. John Wiley and Sons Inc. 2017-07-29 /pmc/articles/PMC5582238/ /pubmed/28878914 http://dx.doi.org/10.1002/ccr3.1073 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
de Haseth, Stephanie B.
Bakker, Egbert
Vermeer, Maarten H.
el Idrissi, Hakima
Bosse, Tjalling
Smit, Vincent T.H.B.M.
Terron‐Kwiatkowski, Anna
McLean, W.H. Irwin
Peters, Alexander A.W.
Hes, Frederik J.
A novel keratin 13 variant in a four‐generation family with white sponge nevus
title A novel keratin 13 variant in a four‐generation family with white sponge nevus
title_full A novel keratin 13 variant in a four‐generation family with white sponge nevus
title_fullStr A novel keratin 13 variant in a four‐generation family with white sponge nevus
title_full_unstemmed A novel keratin 13 variant in a four‐generation family with white sponge nevus
title_short A novel keratin 13 variant in a four‐generation family with white sponge nevus
title_sort novel keratin 13 variant in a four‐generation family with white sponge nevus
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582238/
https://www.ncbi.nlm.nih.gov/pubmed/28878914
http://dx.doi.org/10.1002/ccr3.1073
work_keys_str_mv AT dehasethstephanieb anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT bakkeregbert anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT vermeermaartenh anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT elidrissihakima anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT bossetjalling anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT smitvincentthbm anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT terronkwiatkowskianna anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT mcleanwhirwin anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT petersalexanderaw anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT hesfrederikj anovelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT dehasethstephanieb novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT bakkeregbert novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT vermeermaartenh novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT elidrissihakima novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT bossetjalling novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT smitvincentthbm novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT terronkwiatkowskianna novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT mcleanwhirwin novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT petersalexanderaw novelkeratin13variantinafourgenerationfamilywithwhitespongenevus
AT hesfrederikj novelkeratin13variantinafourgenerationfamilywithwhitespongenevus