case_images: PMC6330350_01
case_images: Pedigrees of EPPK families 1 (A), 2 (B), and 3 (C). Arrows show the probands.
case_images: fgene-09-00645-g0001.jpg
case_images: PMC6330350_01_fgene-09-00645-g0001.jpg
case_images: F1
case_images: The proband was a 42-year-old man who presented with diffuse thickening and hyperkeratosis on palms with the nails being normal, and combined knuckle pads, hyperhidrosis and camptodactyly (Figures 1A, 2A). Family 2 was a 4 generational EPPK pedigree with 11 affected members, and the 20-year-old female proband presented with diffuse thickening and hyperkeratosis on palms and soles (Figures 1B, 2B). Family 3 was a 5 generational EPPK pedigree with 10 affected members, and the proband was a 42-year-old man who demonstrated hyperkeratosis of both palmar and plantar skin within 1 year of birth (Figures 1C, 2C).
case_images: Clinical representations of the proband. (A) Knuckle pads on the dorsal aspect of the proband's hands. (B) Diffuse hyperkeratosis of the proband's palms and soles. (C) Well-demarcated erythematous border of the proband's.
case_images: fgene-09-00645-g0002.jpg
case_images: PMC6330350_01_fgene-09-00645-g0002.jpg
case_images: F2
case_images: The proband was a 42-year-old man who presented with diffuse thickening and hyperkeratosis on palms with the nails being normal, and combined knuckle pads, hyperhidrosis and camptodactyly (Figures 1A, 2A). Family 2 was a 4 generational EPPK pedigree with 11 affected members, and the 20-year-old female proband presented with diffuse thickening and hyperkeratosis on palms and soles (Figures 1B, 2B). Family 3 was a 5 generational EPPK pedigree with 10 affected members, and the proband was a 42-year-old man who demonstrated hyperkeratosis of both palmar and plantar skin within 1 year of birth (Figures 1C, 2C).
case_images: (A) Heterozygous variants c.482A>G identified in Family PPK-1. (B) Heterozygous variants c.487C>T identified in Family PPK-2. (C) Heterozygous variants c.488G>A identified in Family PPK-3.
case_images: fgene-09-00645-g0003.jpg
case_images: PMC6330350_01_fgene-09-00645-g0003.jpg
case_images: F3
case_images: Patients of family 1 had a heterozygous mutation c.482A>G (P.Asn161His) in KRT9 gene (Figure 3A). Patients of family 2 had a heterozygous mutation c.487C>T (p.Arg163Trp) in KRT9 gene (Figure 3B). Patients of family 3 had a heterozygous mutation c.488G>A (p.Arg163Gln) in KRT9 gene (Figure 3C).These mutations were not found in normal members of three families and in 100 healthy controls.