KRT2-nEDD

Previously: Superficial epidermolytic ichthyosis

nEDD Gene: KRT2 AD

Onset: Birth to infancy

Pathway: Structural proteins

Category Paper: nEDD Paper

KRT2-nEDD: diffuse thickening of the skin with areas of superficial detachment in a patient with a darker skin phototype. This typical appearance is due to the presence of epidermolysis in the upper layers of the stratum corneum.

Key Clinical Clues

Blistering/erosions and erythema at birth, mild scaling without erythroderma, superficial erosion ('moulting').

Additional Cutaneous Features

Flares with large bullae. Histopathology: Granular degeneration and sometimes epidermolysis in superficial epidermis.

Treatment

Small molecules, siRNA, repurposed drugs.

References

Rothnagel JA, Traupe H, Wojcik S et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet 1994; 7:485-90.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer