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Mutilating palmoplantar keratoderma represents a heterogeneous group of disorders, unified by characteristic mutilation of the fingers or toes, associated with palmoplantar keratoderma. Although loricrin gene mutations were recently reported in Vohwinkel's syndrome and erythrokeratoderma, the
In the course of studies on local keratin phenotypes in the epidermis of the adult mouse, we have identified a new 65 kD and 48 kD keratin pair. In mouse skin, this keratin pair is only expressed in suprabasal cells of adult mouse tail scale epidermis which is characterized by the complete absence
Although pathogenic keratin mutations have been well characterized in inherited epidermal disorders, analogous defects in keratins expressed in non-epidermal epithelia have yet to be described. White sponge nevus (WSN) is a rare autosomal dominant disorder of non-cornifying squamous epithelial