KRT1-pEDD-V1 domain; nonepidermolytic

Previously: Nonepidermolytic PPK, type Kimonis

pEDD Gene: KRT1 AD

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Mild-to-moderate diffuse keratoderma with erythematous halo; extension along Achilles tendon; knuckle pads; sometimes plaques over knees and elbows, umbilicus and nipple areolae

References

Kimonis V, DiGiovanna JJ, Yang JM et al. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol 1994; 103:764-9.

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