Figure 1.
Representative epidermal abnormalities of the subjects carrying dominant GJB2 mutations.
(A) Thickening of the skin and the circular keratotic constriction band (box); (B) Peeling (box) and deep fissures (arrow in the box); (C) Punctiform keratoderma; (D) Callus (the upper box) and striped keratoderma (the lower box); (E) Thickened nails; (F) Brittle nails; (G) Erythema; (H) knuckle pad; (I) spooned nails.
Table 1.
Genotypes and phenotypes of subjects with dominant GJB2 mutations.
Figure 2.
Genotype and phenotype characterization of Fmaily 209.
(A) Pedigree and the genotypes of family members. Proband C209-1 with de novo p.R184Q mutation of GJB2 was pointed by the arrow. (B) HL phenotypes of C209-1. (C) PPK phenotypes of C209-1 including the thickening and peeling of the skin, keratoderma, callus (the left panel), spoon nails of the toes (the middle panel) and thickened nails of the fingers (the right panel). (D) Skin biopsy of the left sole showing hyperkeratosis, thickening of the granular layer, acanthosis, and sparse lymphocytes infiltration in the superficial layer of dermis. (Hematoxylin-eosin stain; original magnification ×200.).
Figure 4.
Genotype and phenotype characterization of Family D441.
(A) Pedigree and the genotypes of family members. Subject D441-2 with de novo p.R75W mutation of GJB2 was pointed by the arrow. (B) HL phenotypes of D441-1 and D441-2. (C) PPK phenotypes of D441-1 and D441-2. Note that D441-1 had more severe keratoderma (the third panels) and erythema (the second, fourth and fifth panels) than D441-2, and that the PPK phenotype of D441-1 was extended to the wrist (the second panels), the ankle (the fourth and fifth panels) and the back of the hands and feet (the second and fourth panels).
Figure 3.
Genotype and phenotype characterization of Fmaily D439.
(A) Pedigree and the genotypes of family members. (B) HL phenotypes of D439-1, D439-2 and D439-4. (C) PPK phenotypes of D439-1, D439-2 and D439-4. Note that D439-1 and D439-4 had more severe keratoderma than D439-2 (the left and right panels), and that a number of PPK-associated epidermal abnormalities observed in D439-1 and D439-4 were absent in D439-2, including peeling of the skin (arrows in the right panel), knuckle pad (arrows, the middle panel) and circular keratotic constriction band (arrows, the left panel).