case_images: PMC11705338_01
case_images: Cutaneous manifestations on the face (a) and on the extremities, hand (b).
case_images: 10.1177_26330040241311621-fig1.jpg
case_images: PMC11705338_01_10.1177_26330040241311621-fig1.jpg
case_images: fig1-26330040241311621
case_images: During the physical examination in the ED, he was found to have a nonmucopurulent bilateral conjunctival injection, lip edema, tongue inflammation, and a maculopapular rash on the thorax, abdomen, and face (Figure 1).
case_images: Pedigree of the family indicating affected members with the TERC: n.110_113del variant; the proband (arrow; III-4), his brother (III-5), and his mother (II-5).
case_images: 10.1177_26330040241311621-fig2.jpg
case_images: PMC11705338_01_10.1177_26330040241311621-fig2.jpg
case_images: fig2-26330040241311621
case_images: The family history included an older brother with incidentally diagnosed with asymptomatic thrombocytopenia and a female cousin with thrombocytopenia and portal hypertension, who underwent a splenectomy at 7 years of age (Figure 2). The mutation was absent in the father (Figure 2).