Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report

Adel Boueiz,Carlos Noujeim,Edmond Bou Assaf,Ghassan Jamaleddine,Marwan S Abougergi

doi:10.1186/1752-1947-3-6622

Abstract

IntroductionDyskeratosis 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 presentationWe report the case of a 31-year-old Lebanese woman with dyskeratosis congenita who succumbed to devastating bilateral pneumothoraces.ConclusionCareful 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.

Highlights

Dyskeratosis congenita is a rare genodermatosis, characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes
Case presentation: We report the case of a 31-year-old Lebanese woman with dyskeratosis congenita who succumbed to devastating bilateral pneumothoraces
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

Summary

Introduction

Dyskeratosis congenita (DC) is an inherited syndrome that was first described by Zinsser in 1910, and further characterized by Engman (1926) and Cole et al in 1930 [1]. Case presentation A 31-year-old Lebanese woman presented to our medical centre with acute onset of shortness of breath and pleuritic chest pain. Her medical history dated back to 20 years before presentation, when she started developing neck and upper chest skin hyperpigmentation along with progressive hair loss. A few years later, she was found to have pancytopenia and bone marrow hypoplasia and was diagnosed with DC Since that time, she had been receiving blood transfusions regularly in another medical institution. A chest tube was inserted in the right pleural space (Figure 3) She was later intubated and placed on Assist-Control low-tidal volume mechanical ventilation for worsening hypoxic respiratory failure. The poor lung re-expansion was documented bilaterally by serial X-rays, and there was no evidence of ventilator-associated pneumonia or any additional comorbidity

Discussion

Conclusion

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