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

doi:10.1016/j.humpath.2014.10.003

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

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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 language	English (US)
Pages (from-to)	147-152
Number of pages	6
Journal	Human Pathology
Volume	46
Issue number	1
DOIs	https://doi.org/10.1016/j.humpath.2014.10.003
State	Published - 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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10.1016/j.humpath.2014.10.003

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title = "Pulmonary fibrosis in dyskeratosis congenita: Report of 2 cases",

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.",

keywords = "DKC1 mutation, Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Pulmonary fibrosis, Usual interstitial pneumonia",

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

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AU - Dvorak, Leah A.

AU - Vassallo, Robert

AU - Kirmani, Salman

AU - Johnson, Geoffrey

AU - Hartman, Thomas E.

AU - Tazelaar, Henry D.

AU - Leslie, Kevin O.

AU - Colby, Thomas V.

AU - Cockcroft, Donald W.

AU - Churg, Andrew M.

AU - Yi, Eunhee S.

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AB - 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.

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KW - Hoyeraal-Hreidarsson syndrome

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KW - Usual interstitial pneumonia

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Pulmonary fibrosis in dyskeratosis congenita: Report of 2 cases

Abstract

Keywords

ASJC Scopus subject areas

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