CTICasesDyskeratosis Congenita with Upper-Lobe Predominant UIP
Imaging findings
Chest CT shows extensive reticulation and traction bronchiectasis, with fibrosis most severe in the upper lobes and subpleural honeycombing. This distribution is inconsistent with typical UIP criteria (which is usually basal-predominant), but pathology confirmed a UIP pattern. The patient is a non-smoker with a familial history of pulmonary fibrosis.
Key takeaways
Dyskeratosis congenita is a telomere mutation disease characterized by skin hyperpigmentation, oral leukoplakia, and nail dystrophy. It is a known, albeit rare, cause of interstitial lung disease, particularly familial pulmonary fibrosis, often presenting at an earlier age with atypical distributions (e.g., upper-lobe predominant UIP). This syndrome is due to DNA damage and inability to repair it, affecting multiple organ systems.
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