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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-06-2010
Symbol KHM1
Location 1q21.3
Name keratoderma (hyperkeratosis), palmoplantar, mutilans,1
Other name(s)
  • Vohwinkel syndrome variant form
  • mutilating keratoderma with ichthyosis
  • Corresponding gene LOR
    Main clinical features
  • ectodermal dysplasia, deafness with palmoplantar keratoderma, constricting bands on the fifth digits of hands and feet (pseudoainhum)
  • may present as congenital ichthyosiform erythroderma, and should be included in the differential diagnosis of collodion baby (Matsumoto 2001)
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name loricrin, major component of epidermal differentiation complex (LOR)