• Human pathology · Jan 2015

    Case Reports

    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, and Eunhee S Yi.
    • Division of Anatomic Pathology, Mayo Clinic, Rochester, MN.
    • Hum. Pathol. 2015 Jan 1;46(1):147-52.

    AbstractDyskeratosis 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.Copyright © 2014 Elsevier Inc. All rights reserved.

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