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.

Figure 1

Chest X-ray film taken on the first admission to our institution showing large left pneumothorax estimated at 35% and reticulonodular infiltrates involving both lung fields.

Figure 2

Chest X-ray film taken 1 year before the patient's first admission to our institution, showing patchy areas of increased density in the periphery of both lung fields, hyperinflation of the lungs and areas of honeycombing in the right lower lobe consistent with interstitial fibrosis.

Figure 3

Chest X-ray film taken 3 months after the patient's first admission to our institution, showing a right-sided pneumothorax, estimated at 50%, with persistence of the left pneumothorax; right chest tube in place.