Case Report
Usual Interstitial Pneumonia Complicating Dyskeratosis Congenita

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Dyskeratosis congenita (DC) is a rare disorder characterized by skin hyperpigmentation, nail dystrophy, and leukoplakia of mucous membranes. Pulmonary complications occur in approximately 20% of patients, although the specific histopathologic features, the temporal relationship between the diagnosis of DC and the development of pulmonary fibrosis, and the response to specific treatment are largely undefined. We describe 2 patients with DC who developed usual interstitial pneumonia. Pulmonary fibrosis developed 18 and 38 years after the original manifestations of DC. Both patients died of respiratory failure, 4 and 6 months after lung biopsy. Pulmonary fibrosis in patients with DC may be linked to underlying abnormalities of fibroblast function.

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Case 1

A 28-year-old man presented with a 6-month history of shortness of breath, dry cough, and fatigue. He had a minimal smoking history but no history of connective tissue disorder, known fibrogenic drug exposure, environmental or occupational exposure linked to pulmonary fibrosis, or cardiopulmonary disease. His medical history was remarkable for DC. His known family history was negative for DC (his father had been adopted and had died in an accident at age 25 years). His first recognized

DISCUSSION

Dyskeratosis congenita is an inherited condition in which abnormal cutaneous pigmentation occurs in combination with nail dystrophy and mucosal leukoplakia.1 These symptoms usually appear when patients are between 5 and 10 years old, although they may occur earlier or later.1 Other features of DC include bone marrow failure, mental retardation, pulmonary disease, and genitourinary, skeletal, and gastrointestinal abnormalities.2, 3 Bone marrow failure and pulmonary disease are the 2 most serious

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