Figures & data
Figure 1 Pedigree figure.
Notes: Affected family members are represented by black symbols. Pedigree of the epidermolytic hyperkeratosis family studied. Arrow indicates the proband.
Figure 2 Clinical, histopathological, and gene sequencing of the patients.
Notes: Physical examination of the proband revealed hyperkeratosis and scales on the trunk and extremities (A) and desquamation of the palm (B). Hyperkeratotic plaques can be seen on the back of the hand of her son (C) and the lesion healed quickly after retinoid acid treatment (D). The histopathological examination of the proband revealed hyperkeratosis and acanthosis, severe granular degeneration in the spinous and granular layers of the epidermis (hematoxylin and eosin stain ×100) (E). Sequencing results of exon 1 of KRT10 from the patients (F) and from an unaffected individual (G). A heterozygous mutation c.467G>A resulting in an arginine to histidine substitution in codon 156 (p.Arg156His) of KRT10 was identified in the family.
