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.
authors.affiliation: Division of Anatomic Pathology, Mayo Clinic, Rochester, MN.
authors.forename: Leah A
authors.initials: LA
authors.lastname: Dvorak
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN.
authors.forename: Robert
authors.initials: R
authors.lastname: Vassallo
authors.affiliation: Department of Medical Genetics and Pediatrics, Mayo Clinic, Rochester, MN.
authors.forename: Salman
authors.initials: S
authors.lastname: Kirmani
authors.affiliation: Department of Radiology, Mayo Clinic, Rochester, Mayo Clinic, Rochester, MN; Department of Immunology, Mayo Clinic, Rochester, MN.
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Johnson
authors.affiliation: Department of Radiology, Mayo Clinic, Rochester, Mayo Clinic, Rochester, MN.
authors.forename: Thomas E
authors.initials: TE
authors.lastname: Hartman
authors.affiliation: Division of Anatomic Pathology, Mayo Clinic, Scottsdale, AZ.
authors.forename: Henry D
authors.initials: HD
authors.lastname: Tazelaar
authors.affiliation: Division of Anatomic Pathology, Mayo Clinic, Scottsdale, AZ.
authors.forename: Kevin O
authors.initials: KO
authors.lastname: Leslie
authors.affiliation: Division of Anatomic Pathology, Mayo Clinic, Scottsdale, AZ.
authors.forename: Thomas V
authors.initials: TV
authors.lastname: Colby
authors.affiliation: Division of Respirology, Critical Care and Sleep Medicine, Department of Medicine, Royal University Hospital, University of Saskatchewan, Saskatoon, SK, Canada.
authors.forename: Donald W
authors.initials: DW
authors.lastname: Cockcroft
authors.affiliation: Department of Pathology, Vancouver General Hospital, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Churg
authors.affiliation: Division of Anatomic Pathology, Mayo Clinic, Rochester, MN. Electronic address: yi.joanne@mayo.edu.
authors.forename: Eunhee S
authors.initials: ES
authors.lastname: Yi
mesh_terms: D001706:Biopsy; D018797:Cell Cycle Proteins / Q000235:genetics; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000145:classification / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D011658:Pulmonary Fibrosis / Q000145:classification / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D012313:RNA / Q000235:genetics; D019098:Telomerase / Q000235:genetics; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; C422952:telomerase RNA; D012313:RNA; C509186:TERT protein, human; D019098:Telomerase
keywords: DKC1 mutation; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Pulmonary fibrosis; Usual interstitial pneumonia