[source]
pmid = PMID:29742735
title = A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita
[diagnosis]
disease_id = OMIM:613990
disease_label = Dyskeratosis congenita, autosomal dominant 3
[text]
At the time of admission, the proband was a 32-year-old woman. She had been complaining of a
dry irritating cough for 2 years and progressive breathlessness on exertion for 6 months.
She had no exudative retinopathy, growth retardation, immune deficiency, or cancer.
Physical examination revealed reticulated hypopigmentation of the body, nail dystrophy, and tongue leukoplakia
(Fig.1A–C). Computed tomography of chest showed subpleural, basal predominance of reticular abnormalities
and honeycombing with traction bronchiectasis (Fig.1D). Her pulmonary function test showed severe
restrictive ventilator dysfunction. Forced vital capacity was 32.46% of the predicted value, and the
forced expiratory volume in first second was 36.81% of the predicted value.
A right heel rash biopsy showed obvious pathological hyperkeratosis, focal acantholysis,
squamous epithelial hyperplasia, and epithelial foot extension.
