Pedigrees and clinical manifestations in TERT mutations (A) Pedigrees and identified TERT gene mutations in families 199 and 284. Circles, females; squares, males; white, wild type; color, mutant as indicated in the chart. Half-filled symbols indicate heterozygosity. The TERT gene haplotype is shown. (B) Clinical manifestations in patient 199.1. are characteristic of DC, including hyperpigmentation of the back and reticular hyperpigmentation of neck, ridged and brittle fingernails, and leukoplakia of the tongue (Canon EOS 300D).