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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-08-2010
Symbol PSS
Location 6p21.33
Name peeling skin syndrome, generalized
Corresponding gene CDSN
Main clinical features
  • with pruritus and atopic diseases, is an unusual ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with an onset at birth or shortly thereafter
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function  
    Remark(s) . nonsense mutation, which leads to the complete loss of corneodesmosin, causes peeling skin disease and absence of corneodesmosin may give rise to a strong predisposition to atopic manifestations (Oji 2010)