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KRT10-nEDD-epidermolytic

Previously: Epidermolytic ichthyosis, bullous congenital ichthyosiform erythroderma

nEDD Gene: KRT10 AD, AR (rare)

Onset: Birth

Pathway: Structural proteins

Category Paper: nEDD Paper

KRT10-nEDD-epidermolytic: large corrugated dark scaling in a patient with skin of colour.

Key Clinical Clues

Blistering/erosions and erythema at birth, corrugated, localized or diffuse skin thickening, usually mild or absent PPK.

Additional Cutaneous Features

Histopathology: Granular degeneration, perinuclear vacuoles, sometimes epidermolysis.

Treatment

Small molecules, siRNA, repurposed drugs.

References

Rothnagel JA, Dominey AM, Dempsey LD et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992; 257:1128-30. || Müller FB, Huber M, Kinaciyan T et al. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet 2006; 15:1133-41.

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