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 journalArticle

3 Scopus citations

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 (US)
Pages (from-to)147-152
Number of pages6
JournalHuman Pathology
Volume46
Issue number1
DOIs
StatePublished - Jan 1 2015

Keywords

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

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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    Dvorak, L. A., Vassallo, R., Kirmani, S., Johnson, G., Hartman, T. E., Tazelaar, H. D., Leslie, K. O., Colby, T. V., Cockcroft, D. W., Churg, A. M., & Yi, E. S. (2015). Pulmonary fibrosis in dyskeratosis congenita: Report of 2 cases. Human Pathology, 46(1), 147-152. https://doi.org/10.1016/j.humpath.2014.10.003