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

Abstract

Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific 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 (Stevanović 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.

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  • Publisher Full Text
  • Authors

    Castori M, Valiante M, Ritelli M, Preziosi N, Colombi M, Paradisi M, Grammatico P

    Source

    American journal of medical genetics. Part A 152A:8 2010 Aug pg 2043-7

    MeSH

    Ainhum
    Alopecia
    Female
    Humans
    Infant, Newborn
    Keratoderma, Palmoplantar
    Male
    Middle Aged
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article
    Review

    Language

    eng

    PubMed ID

    20635335