CTICasesDyskeratosis Congenita-Related Fibrosis
Imaging findings
Progressive interstitial lung disease, including reticulation and focal fibrosis, in a young patient (24 years old) with advanced coronary artery calcification.
Key takeaways
Dyskeratosis congenita is a telomere maintenance mutation that affects high-turnover cell lineages. It should be considered in young patients presenting with premature fibrosis and systemic symptoms (skin/nail changes).
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