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

Fingerprint

Dyskeratosis Congenita
Pulmonary Fibrosis
Interstitial Lung Diseases
Lung
Idiopathic Pulmonary Fibrosis
Telomere
Blood Vessels
Vertebrates
Maintenance
Mutation

Keywords

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

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

Dvorak, L. A., Vassallo, R., Kirmani, S., Johnson, G., Hartman, T. E., Tazelaar, H. D., ... 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

Pulmonary fibrosis in dyskeratosis congenita : Report of 2 cases. / Dvorak, Leah A.; Vassallo, Robert; Kirmani, Salman; Johnson, Geoffrey; Hartman, Thomas E.; Tazelaar, Henry D.; Leslie, Kevin O.; Colby, Thomas V.; Cockcroft, Donald W.; Churg, Andrew M.; Yi, Eunhee S.

In: Human Pathology, Vol. 46, No. 1, 01.01.2015, p. 147-152.

Research output: Contribution to journalArticle

Dvorak, LA, Vassallo, R, Kirmani, S, Johnson, G, Hartman, TE, Tazelaar, HD, Leslie, KO, Colby, TV, Cockcroft, DW, Churg, AM & Yi, ES 2015, 'Pulmonary fibrosis in dyskeratosis congenita: Report of 2 cases', Human Pathology, vol. 46, no. 1, pp. 147-152. https://doi.org/10.1016/j.humpath.2014.10.003
Dvorak LA, Vassallo R, Kirmani S, Johnson G, Hartman TE, Tazelaar HD et al. Pulmonary fibrosis in dyskeratosis congenita: Report of 2 cases. Human Pathology. 2015 Jan 1;46(1):147-152. https://doi.org/10.1016/j.humpath.2014.10.003
Dvorak, Leah A. ; Vassallo, Robert ; Kirmani, Salman ; Johnson, Geoffrey ; Hartman, Thomas E. ; Tazelaar, Henry D. ; Leslie, Kevin O. ; Colby, Thomas V. ; Cockcroft, Donald W. ; Churg, Andrew M. ; Yi, Eunhee S. / Pulmonary fibrosis in dyskeratosis congenita : Report of 2 cases. In: Human Pathology. 2015 ; Vol. 46, No. 1. pp. 147-152.
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