Ichthyosis

Gene: KRT2

Green List (high evidence)

Superficial epidermolytic ichthyosis (SEI), previously known as Ichthyosis bullosa of Siemens.
Clinical findings are similar to those of epidermolytic ichthyosis, but the phenotype is generally milder and can be quite variable in severity.
SEI is clinically characterized by mild epidermal hyperkeratosis over flexural areas, blister formation, and the development of superficially denuded areas of hyperkeratotic skin. Symptoms usually improve with age.

PMID: 26581228;
- 7 affecteds in 4 families
> all missense variants

PMID: 22612346;
- 2 families
> missense variants

Created: 17 Aug 2020, 2:15 a.m. | Last Modified: 17 Aug 2020, 2:15 a.m.

Panel Version: 0.87

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Superficial epidermolytic ichthyosis (SEI) (MIM#146800)

Publications

• 26581228
• 22612346