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KRT1-nEDD-spiny

Previously: Ichthyosis hystrix, Curth-Macklin type

nEDD Gene: KRT1 AD

Onset: Infancy

Pathway: Structural proteins

Category Paper: nEDD Paper

Key Clinical Clues

Very severe dark, spiky or verrucous plaques, severe PPK.

Additional Cutaneous Features

Histopathology: Extensive serrated thickening of the stratum corneum and prominent papillomatosis without epidermolysis.

Treatment

Small molecules, siRNA, repurposed drugs.

References

Sprecher E, Miller CJ, Richard G et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 2001; 116:511-19. || Terrinoni A, Didona B, Caporali S et al. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin. PLOS ONE 2018, 13:e0195792.

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