TY - JOUR
T1 - Usual interstitial pneumonia complicating dyskeratosis congenita
AU - Utz, James P.
AU - Ryu, Jay H.
AU - Myers, Jeffrey L.
AU - Michels, Virginia V.
PY - 2005/6
Y1 - 2005/6
N2 - 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.
AB - 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.
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U2 - 10.1016/s0025-6196(11)61538-3
DO - 10.1016/s0025-6196(11)61538-3
M3 - Article
C2 - 15945534
AN - SCOPUS:20044379963
SN - 0025-6196
VL - 80
SP - 817
EP - 821
JO - Mayo Clinic proceedings
JF - Mayo Clinic proceedings
IS - 6
ER -