Pulmonary fibrosis in dyskeratosis congenita: Report of 2 cases

Leah A. Dvorak, Robert Vassallo, Salman Kirmani, Geoffrey Johnson, Thomas E. Hartman, Henry D. Tazelaar, Kevin O. Leslie, Thomas V. Colby, Donald W. Cockcroft, Andrew M. Churg, Eunhee S. Yi

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

Abstract

Dyskeratosis congenita (DC) is a disorder of poor telomere maintenance and is related to 1 or more mutations that involve the vertebrate telomerase RNA component. Most affected patients develop mucocutaneous manifestations and cytopenias in the peripheral blood between 5 and 15 years of age. DC patients may also develop pulmonary complications including fibrotic interstitial lung disease and pulmonary vascular abnormalities. The radiologic and pathologic features of pulmonary fibrosis associated with DC are poorly defined. Herein, we report 2 new DC cases and suggest that the radiologic and histopathologic findings may resemble usual interstitial pneumonia but may not neatly fit into the current classification of interstitial lung disease.

Original languageEnglish
Pages (from-to)147-152
Number of pages6
JournalHuman Pathology
Volume46
Issue number1
DOIs
Publication statusPublished - 1 Jan 2015
Externally publishedYes

Keywords

  • DKC1 mutation
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • Pulmonary fibrosis
  • Usual interstitial pneumonia

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