Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report

INTRODUCTION: Dyskeratosis congenita is a rare genodermatosis, characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. It is also associated with a variety of non-cutaneous abnormalities such as bone marrow failure, malignancy and pulmonary compli...

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Autores principales: Boueiz, Adel, Abougergi, Marwan S, Noujeim, Carlos, Assaf, Edmond Bou, Jamaleddine, Ghassan
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726487/
https://www.ncbi.nlm.nih.gov/pubmed/19830116
http://dx.doi.org/10.1186/1752-1947-3-6622
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author Boueiz, Adel
Abougergi, Marwan S
Noujeim, Carlos
Assaf, Edmond Bou
Jamaleddine, Ghassan
author_facet Boueiz, Adel
Abougergi, Marwan S
Noujeim, Carlos
Assaf, Edmond Bou
Jamaleddine, Ghassan
author_sort Boueiz, Adel
collection PubMed
description INTRODUCTION: Dyskeratosis congenita is a rare genodermatosis, characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. It is also associated with a variety of non-cutaneous abnormalities such as bone marrow failure, malignancy and pulmonary complications. Among its wide range of clinical manifestations, fatal pneumothorax has rarely been reported. CASE PRESENTATION: We report the case of a 31-year-old Lebanese woman with dyskeratosis congenita who succumbed to devastating bilateral pneumothoraces. CONCLUSION: Careful surveillance of patients with dyskeratosis congenita is required as incipient respiratory failure due to pneumothorax may be successfully treated if detected at an early stage.
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spelling pubmed-27264872009-10-14 Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report Boueiz, Adel Abougergi, Marwan S Noujeim, Carlos Assaf, Edmond Bou Jamaleddine, Ghassan J Med Case Reports Case report INTRODUCTION: Dyskeratosis congenita is a rare genodermatosis, characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. It is also associated with a variety of non-cutaneous abnormalities such as bone marrow failure, malignancy and pulmonary complications. Among its wide range of clinical manifestations, fatal pneumothorax has rarely been reported. CASE PRESENTATION: We report the case of a 31-year-old Lebanese woman with dyskeratosis congenita who succumbed to devastating bilateral pneumothoraces. CONCLUSION: Careful surveillance of patients with dyskeratosis congenita is required as incipient respiratory failure due to pneumothorax may be successfully treated if detected at an early stage. BioMed Central 2009-03-26 /pmc/articles/PMC2726487/ /pubmed/19830116 http://dx.doi.org/10.1186/1752-1947-3-6622 Text en Copyright ©2009 licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case report
Boueiz, Adel
Abougergi, Marwan S
Noujeim, Carlos
Assaf, Edmond Bou
Jamaleddine, Ghassan
Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
title Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
title_full Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
title_fullStr Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
title_full_unstemmed Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
title_short Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
title_sort fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
topic Case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726487/
https://www.ncbi.nlm.nih.gov/pubmed/19830116
http://dx.doi.org/10.1186/1752-1947-3-6622
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AT assafedmondbou fatalbilateralpneumothoracescomplicatingdyskeratosiscongenitaacasereport
AT jamaleddineghassan fatalbilateralpneumothoracescomplicatingdyskeratosiscongenitaacasereport

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