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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Detalles Bibliográficos
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
Descripción
Sumario: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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