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KRT1-nEDD-nonepidermolytic

Previously: Epidermolytic ichthyosis

nEDD Gene: KRT1 AD

Onset: Birth to infancy

Pathway: Structural proteins

Category Paper: nEDD Paper

Key Clinical Clues

Diffuse erythema, scaling and erosions, PPK.

Additional Cutaneous Features

Histopathology: Extensive serrated hyperkeratosis and prominent papillomatosis without epidermolysis.

Treatment

Small molecules, siRNA, repurposed drugs.

References

Eskin-Schwartz M, Drozhdina M, Sarig O et al. Epidermolytic ichthyosis sine epidermolysis. Am J Dermatopathol 2017: 39:440-4.

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

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