Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report
نویسندگان
چکیده
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.
منابع مشابه
Dyskeratosis Congenita; a Case Report and Review of Literature
Dyskeratosis congenita, a rare inherited condition, is estimated to occur in 1 in 1 million people. The disease is characterised by a classic triad: nail dystrophy, reticulate skin pigmentation, and oral leukoplakia. These patients may also exhibit variable extend of pulmonary, gastrointestinal, genitourinary, cerebral, and dental involvement. Early mortality is often associated with bone marro...
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عنوان ژورنال:
دوره 3 شماره
صفحات -
تاریخ انتشار 2009