PMC3764946_01
Residual erythema and skin peeling on the plantar aspect of the feet.
cde-0005-0210-g01.jpg
PMC3764946_01_cde-0005-0210-g01.jpg
F1
Clinical examination showed erythematous erosions with desquamation at the periphery on both palms and soles as well as a flaccid blister on the finger of the right hand (fig. 1, fig. 2).
TGM5 mutations in the index case. Partial sequences of exons 1 (left) and 3 (right) of TGM5 in a control and index case are shown. Mutations are indicated by red arrows and the corresponding codons are underlined. The green arrow points to the single nucleotide polymorphism p.T109M (rs113463533).
cde-0005-0210-g03.jpg
PMC3764946_01_cde-0005-0210-g03.jpg
F3
TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3. The father is a heterozygous carrier of the mutation c.2T>C, p.M1T and the mother is a heterozygous carrier of the mutation c.337G>T, p.G113C (fig. 3).