Epidermolytic palmoplantar keratoderma-2 (EPPK2) is an autosomal dominant skin disorder in which affected individuals have hyperkeratosis restricted to palms and soles present from birth or childhood (Hatsell et al., 2001; Nakamizo et al., 2023).
In some individuals with EPPK2, keratoderma involving the palms and soles extends to the dorsal surfaces of the hands and feet and involves the skin over the Achilles tendon (transgrediens), a phenotype known as Greither syndrome (Gach et al., 2005).
For a discussion of genetic heterogeneity of epidermolytic palmoplantar keratoderma, and of palmoplantar keratoderma in general, see 144200. [from
OMIM]