Journal of medical case reports · 2009
Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report.
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Boueiz Adel, Abougergi Marwan S, Noujeim Carlos, Assaf Edmond Bou, Jamaleddine Ghassan
Аннотация
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.
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.