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KRT17-pEDD-PC

Previously: Pachyonychia congenita 2

pEDD Gene: KRT17 AD, rarely AR

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

KRT17-pEDD: toenail dystrophy and steatocystomas on the back.

Key Clinical Clues

Focal keratoderma, cysts (steatocystomas), follicular accentuation, natal teeth.

Additional Cutaneous Features

Some pain, follicular accentuation on high-friction areas, nonscarring alopecia (recessive cases). Histopathology: Mild perinuclear eosinophilic condensations and cytoplasmic vacuolization in spinous layer keratinocytes.

Additional Extracutaneous Features

History of natal teeth

Treatment

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

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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