Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris.

ABSTRACT

We report a 21-year-old man with recurrent bullous eruptions and severe itching on the lower legs and feet since 5 years of age. Dry, dirty brown, tile-like scales covered his lower legs with dystrophic toenails. Nodular prurigo-like lesions, scarring papules and milia remitted after the bullous eruptions. His father and another two family members had similar but mild presentations with recurrent bullae on the lower legs. Whole exome sequencing detected the heterozygous variants of COL7A1 c.6698G>A and FLG c.7249C>T in this pedigree. COL7A1 c.6698G>A was reported in bullous dermolysis of the newborn and FLG c.7249C>T was reported in ichthyosis vulgaris. Thus, the diagnosis of dystrophic epidermolysis bullosa pruriginosa associated with ichthyosis vulgaris was made.