Pulmonary fibrosis in dyskeratosis congenita: Report of 2 cases

Authors

Leah A. Dvorak, Mayo Clinic, United States
Robert Vassallo, Mayo Clinic, United States
Salman Kirmani, Mayo Clinic, United StatesFollow
Geoffrey Johnson, Mayo Clinic, United States
Thomas E. Hartman, Mayo Clinic, United States
Henry D. Tazelaar, Mayo Clinic, United States
Kevin O. Leslie, Mayo Clinic, United States
Thomas V. Colby, Mayo Clinic, United States
Donald W. Cockcroft, University of Saskatchewan, Canada
Andrew M. Churg, University of British Columbia, Canada
Eunhee S. Yi, Mayo Clinic, United States

Document Type

Article

Department

Paediatrics and Child Health

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.

Comments

This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Human Pathology

Recommended Citation

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.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1274