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  1. Adoption of a demographic database for family studies of hereditary palmoplantar keratoderma type Gamborg Nielsen.

    Article - En anglais

    In the northernmost county of Seeden (Norrbotten) two different clinical and genetic types of hereditary palmoplantar keratoderma have been reported: a common autosomal dominant form, corresponding to the descriptions performed by Unna and Thost, and an obviously autosomal recessive form, which clinically differed from other diffuse palmoplantar keratodermas, named the Gamborg Nielsen type.

    For further family studies and to support its probably recessive inheritance a demographic mapping of four families with this rare keratinization disorder was performed.

    It could be shown that these families belonged to the same family at different levels of generations; however, a common ancestor, who connected these families was not found.

    Mots-clés Pascal : Kératodermie palmoplantaire Thost Unna, Diagnostic différentiel, Epidémiologie, Registre, Etude familiale, Homme, Suède, Europe, Forme clinique, Peau pathologie, Dyskératose, Hyperkératose, Maladie héréditaire, Kératodermie palmoplantaire Gamborg Nielsen

    Mots-clés Pascal anglais : Keratoderma palmoplantaris Thost Unna, Differential diagnostic, Epidemiology, Register, Family study, Human, Sweden, Europe, Clinical form, Skin disease, Dyskeratosis, Hyperkeratosis, Genetic disease

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 94-0178285

    Code Inist : 002B08I. Création : 199406.