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KRT6B-pEDD-PC

Previously: Pachyonychia congenita 4

pEDD Gene: KRT6B AD

Onset: Childhood

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Later onset, painful plantar keratoderma, some dystrophic nails.

Treatment

siRNA (Leachman, 2010), Rapamycin (Hickerson, 2009), Statins (Zhao, 2011), EGFR inhibitors (Sprecher, 2025), Botulinum toxin (Sprecher, 2025).

References

Smith FJ, Jonkman MF, van Goor H et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet 1998; 7:1143-8.

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