Clinical manifestations of telomere biology disorders in two adults. (A) Computed tomography scan (coronal plane) of a 35-year-old male with cryptogenic hepatic disease (case 1). Transjugular intrahepatic portosystemic shunt was set in place at the age of 21 years. Blue arrow indicates heterogenous liver parenchyma, green arrow transjugular intrahepatic portosystemic shunt, and red arrow splenomegaly. (B) Image of the hypocellular bone marrow biopsy of a 35-year-old TBD patient with severe cytopenia (case 1). (C) Pulmonary high-resolution computed tomography scan (axial plane) of a 54-year-old female with a TBD due to a heterozygous TERC mutation (case 2). Pulmonary bases bilaterally show peripheral interstitial and ground-glass opacities with early honeycombing. Findings are consistent with usual interstitial pneumonia pattern of pulmonary fibrosis. For all images written permission from patients was obtained. Figure 1C was previously published in Giri et al. 2019.¹²