Usual interstitial pneumonia complicating dyskeratosis congenita.
Dyskeratosis congenita (DC) is a rare disorder characterized by skin hyperpigmentation, nail dystrophy, and leukoplakia of mucous membranes. Pulmonary complications occur in approximately 20% of patients, although the specific histopathologic features, the temporal relationship between the diagnosis of DC and the development of pulmonary fibrosis, and the response to specific treatment are largely undefined. We describe 2 patients with DC who developed usual interstitial pneumonia. Pulmonary fibrosis developed 18 and 38 years after the original manifestations of DC. Both patients died of respiratory failure, 4 and 6 months after lung biopsy. Pulmonary fibrosis in patients with DC may be linked to underlying abnormalities of fibroblast function.
Utz
James P
JP
Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Ryu
Jay H
JH
Myers
Jeffrey L
JL
Michels
Virginia V
VV
D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000473:pathology; D005355:Fibrosis / Q000209:etiology / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D008168:Lung / Q000473:pathology; D017563:Lung Diseases, Interstitial / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed