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. 2017 Apr 2;176(5):1345–1350. doi: 10.1111/bjd.14973

Figure 2.

Figure 2

Pedigrees of families 2 (Scottish) and 3 (English), clinical images of family 2 and mutation analysis of families 2 and 3. (a) Pedigree of family 2 showing a history of palmoplantar keratoderma. The arrow indicates the proband. (b) Pedigree of family 3 showing a history of palmoplantar keratoderma. (c) Palm of the proband's half‐sister in family 2 showing focal hyperkeratosis (arrows). (d) Focal plantar hyperkeratosis of the proband's forefoot in family 2. (e) Fingers of the proband's son in family 2 showing linear hyperkeratosis (arrows) on the volar surface of the digits with focal palmar thickening. (f) Soles of the subject in (e) showing focal plantar hyperkeratosis. (g) DNA sequence of exon 2 of the desmoglein 1 gene (DSG1) in an unaffected control sample. (h) The same region of DSG1 from the probands of family 2 and 3. The arrow indicates a heterozygous C>T mutation at c.76 resulting in a premature termination codon at p.Arg26*.