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J Med Case Rep. 2009 Mar 26;3:6622. doi: 10.1186/1752-1947-3-6622.

Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report.

Abstract

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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