(C and D) An affected 8-year-old male (from pedigree ED-01) and an affected 12-year-old female (from pedigree ED-02) both show features of tongue hyperpigmentation, skin thickening around the margins of the palms and soles, hypoplastic finger and toe nails, knuckle pads on the fingers, and atrophic wrinkling on the dorsal aspects of the hands and feet. Additional clinical images from other subjects are shown in Figure S1.