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.