Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1

H Keren, R Bergman, M Mizrachi, Y Kashi… - Archives of …, 2005 - jamanetwork.com
Background Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and
desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris
striata. Observations We describe a family affected with a diffuse nonstriated form of
palmoplantar keratoderma. Histopathologic examination of skin biopsy specimens disclosed
cell-cell disadhesion in the suprabasal layers of the epidermis, as previously described in
keratoderma palmoplantaris striata. We therefore genotyped all family members using …