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Epidermolytic hyperkeratosis – Abstract
Epidermolytic ichthyosis (EI), (also known as "epidermolytic hyperkeratosis (EHK)", "bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma, or bullous congenital ichthyosiform erythroderma Brocq) is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people.
It involves the clumping of keratin filaments.
Epidermolytic hyperkeratosis – Genetics
It is possible to classify epidermolytic hyperkeratosis based upon palm and sole hyperkeratosis.
This is a dominant genetic condition caused by mutations in the genes encoding the proteins keratin 1 or keratin 10.
- Keratin 1 is associated with the variants affecting the palms and soles.
- Keratin 10 is associated with the variants in which these are unaffected.