Kindler syndrome: a rare case report from Greece

Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize...

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Detalles Bibliográficos
Autores principales: Gkaitatzi, Maria, Kalloniati, Evangelia, Has, Cristina, Kiritsi, Dimitra, Spiliopoulos, Theofanis, Georgiou, Sophia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396407/
https://www.ncbi.nlm.nih.gov/pubmed/30838128
http://dx.doi.org/10.1093/omcr/omz003
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author Gkaitatzi, Maria
Kalloniati, Evangelia
Has, Cristina
Kiritsi, Dimitra
Spiliopoulos, Theofanis
Georgiou, Sophia
author_facet Gkaitatzi, Maria
Kalloniati, Evangelia
Has, Cristina
Kiritsi, Dimitra
Spiliopoulos, Theofanis
Georgiou, Sophia
author_sort Gkaitatzi, Maria
collection PubMed
description Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize the importance of genetic analysis as a gold standard of diagnosis.
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spelling pubmed-63964072019-03-05 Kindler syndrome: a rare case report from Greece Gkaitatzi, Maria Kalloniati, Evangelia Has, Cristina Kiritsi, Dimitra Spiliopoulos, Theofanis Georgiou, Sophia Oxf Med Case Reports Case Report Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize the importance of genetic analysis as a gold standard of diagnosis. Oxford University Press 2019-02-25 /pmc/articles/PMC6396407/ /pubmed/30838128 http://dx.doi.org/10.1093/omcr/omz003 Text en © The Author(s) 2019. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Gkaitatzi, Maria
Kalloniati, Evangelia
Has, Cristina
Kiritsi, Dimitra
Spiliopoulos, Theofanis
Georgiou, Sophia
Kindler syndrome: a rare case report from Greece
title Kindler syndrome: a rare case report from Greece
title_full Kindler syndrome: a rare case report from Greece
title_fullStr Kindler syndrome: a rare case report from Greece
title_full_unstemmed Kindler syndrome: a rare case report from Greece
title_short Kindler syndrome: a rare case report from Greece
title_sort kindler syndrome: a rare case report from greece
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396407/
https://www.ncbi.nlm.nih.gov/pubmed/30838128
http://dx.doi.org/10.1093/omcr/omz003
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AT kiritsidimitra kindlersyndromeararecasereportfromgreece
AT spiliopoulostheofanis kindlersyndromeararecasereportfromgreece
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