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

Hannah Keren, Reuven Bergman, Mordechai Mizrachi, Yechiezkel Kashi, Eli Sprecher*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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 microsatellite markers encompassing 3 keratoderma palmoplantaris striata-associated loci. Haplotype analysis suggested linkage of the disease to 18q12.1, which harbors the DSG1 gene, encoding desmoglein 1. Mutation analysis eventually led to the identification of a causative recurrent nonsense mutation in this gene. Conclusions: Mutations in DSG1 are not exclusively associated with striated palmoplantar keratoderma. The present study illustrates the efficacy of an integrative diagnostic approach to palmoplantar keratodermas involving clinical assessment, pathologic examination, microsatellite marker screening, and mutational analysis.

Original languageEnglish
Pages (from-to)625-628
Number of pages4
JournalArchives of Dermatology
Issue number5
StatePublished - May 2005
Externally publishedYes


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