KRT6A-pEDD-PC
Previously: Pachyonychia congenita 3
Key Clinical Clues
Painful plantar keratoderma, blistering, 20-nail dystrophy, cysts, oral leucokeratosis, 'first bite syndrome'.
Additional Cutaneous Features
PPK, more prone to blistering associated with calluses, follicular accentuation in high-friction areas
Additional Extracutaneous Features
Sharp ear pain ('first bite syndrome') from infancy through childhood, some cases of laryngeal thickening in infancy and childhood (rarely causing airway obstruction), rarely, natal teeth
Treatment
siRNA (Leachman, 2010), Rapamycin (Hickerson, 2009), Statins (Zhao, 2011), EGFR inhibitors (Greco, 2022), Botulinum toxin (Koren, 2020).
References
Bowden PE, Haley JL, Kansky A et al. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995; 10:363-5.
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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