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KRT16-pEDD-PC

Previously: Pachyonychia congenita 1

pEDD Gene: KRT16 AD

Onset: Childhood

Pathway: Structural Proteins

Category Paper: pEDD Paper

KRT16-pEDD: focal plantar calluses with surrounding erythema.

Key Clinical Clues

Painful, focal plantar keratoderma, sometimes striate on palms, nail thickening.

Additional Cutaneous Features

More palmar involvement than other PC variants; extent of nail thickening variant-specific; splinter haemorrhages in nails.

Treatment

siRNA (Leachman, 2010), Rapamycin (Hickerson, 2009), Statins (Zhao, 2011), EGFR inhibitors (Greco, 2022), Botulinum toxin (Koren, 2020).

References

McLean WH, Rugg EL, Lunny DP et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995; 9:273-8.

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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