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KRT83-nEDD

Previously: Erythrokeratodermia variabilis et progressiva

nEDD Gene: KRT83 AD

Onset: Birth

Pathway: Structural proteins

Category Paper: nEDD Paper

Key Clinical Clues

Symmetric plaques mainly on the extremities, expanding and contracting.

Additional Cutaneous Features

Keratoderma and normal hair (distinct from dominant missense variants causing monilethrix).

Treatment

Small molecules, siRNA, repurposed drugs.

References

Shah K, Ansar M, Mughal Z-U-N et al. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet 2017; 54:186-9.

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