Abnormal Keratin 1 and 10 Cytoskeleton in Cultured Keratinocytes from Epidermolytic Hyperkeratosis Caused by Keratin 10 Mutations

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with recessive inheritance of EHK. Sequence analysis revealed a homozygous nonsense mut...

Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.

To the Editor: Epidermolytic hyperkeratosis (EHK, MIM113800) is a rare autosomal dominant genodermatosis, although many cases occur sporadically as new mutations. It is characterized by blistering and erythema at birth, and development of hyperkeratosis with increasing age. Ultrastructural analyses reveal clumping of the keratin intermediate ®laments (KIF) within suprabasal keratinocytes of the...

Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.

Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis (EH) caused by keratin 10 gene mutations have been reported, although no keratin 1 (K1) gene mutation has yet been reported. We detected a K1 gene (KRT1) mutation in epidermal nevus with EH in a 10-year-old Japanese male. The patient showed well-demarcated verrucous, hyperkeratotic plaques mainly on the trunk, covering ...

Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All...