Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.

Palmoplantar keratoderma (PPK) may concur with congenital
alopecia (CA) in various genodermatoses.We report on a 10-yearold
girl with generalized atrichia and a severe form of
PPK causing pseudo-ainhum, sclerodactyly, and contractures,
a phenotype not consistentwith any well-defined condition.Nonspecific
additional findings comprised mild nail dystrophy and
widespread keratosis pilaris including ulerythema ophryogenes.
Direct sequencing of the GJB2 and LOR coding regions yielded
normal results. A review identified two additional sporadic and
four familial cases with PPK and CA. Comparison between
familial cases suggested the existence of two genetically and
phenotypically distinct types of PPK-CA: (i) an autosomal
dominant form (Stevanovic type), a variable and benign phenotype
without significant hand complications, and (ii) a more
complex autosomal recessive variant (Wallis type) with contractures,
sclerodactyly, and pseudo-ainhum. Nuclear cataract may
represent an additional although not constant finding in the
Wallis type PPK-CA. Further reports are required to test this
preliminary conclusion.