PMC6330350_01
Pedigrees of EPPK families 1 (A), 2 (B), and 3 (C). Arrows show the probands.
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F1
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).
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.
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F2
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).
(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.
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F3
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.