Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies

Br J Dermatol. 2015 Jan;172(1):257-61. doi: 10.1111/bjd.13247. Epub 2014 Nov 28.


Monoallelic desmoglein 1 mutations have been known for many years to cause striate palmoplantar keratoderma, but only recently, biallelic loss-of-function mutations were associated with a new disorder, designated as SAM syndrome (comprising severe dermatitis, multiple allergies and metabolic wasting) in two consanguineous families. We report on a new case from a third independent family with the homozygous nonsense mutation, c.2659C>T, p.R887* in exon 15 of DSG1 (desmoglein 1 gene). This mutation led to mRNA decay and loss of expression of desmoglein 1. The clinical phenotype consisted of severe palmoplantar keratoderma, dermatitis and multiple allergies. In contrast to the previous cases, malabsorption, hypoalbuminaemia, developmental delay, hypotrichosis or severe recurrent infections were not observed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Codon, Nonsense / genetics*
  • Dermatitis / genetics*
  • Desmoglein 1 / genetics*
  • Female
  • Homozygote
  • Humans
  • Hypersensitivity / genetics*
  • Keratoderma, Palmoplantar / genetics*
  • Wasting Syndrome / genetics


  • Codon, Nonsense
  • Desmoglein 1