Usual interstitial pneumonia complicating dyskeratosis congenita

James P. Utz, Jay H. Ryu, Jeffrey L. Myers, Virginia V. Michels

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)817-821
Number of pages5
JournalMayo Clinic proceedings
Issue number6
StatePublished - Jun 2005

ASJC Scopus subject areas

  • General Medicine


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