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GENATLAS PHENOTYPE
last update : 07-10-2009
Symbol EHK2
Location 17q21.3
Name epidermolytic hyperkeratosis 2
Other name(s) bullous erythroderma ichthyiosiformis congenita of Brocq
Corresponding gene KRT10
Main clinical features
  • bullous ichthyosiform erythroderma present with skin lesions before the first birthday and 71% have lesions at birth, with notable perinatal mortality and childhood morbidity from epidermal erosions and infections, including cases with recessive inheritance
    • Genetic determination autosomal dominant
    Related entries . including nevus epidermal epidermolytic hyperkeratotic type (OMIM 600648) in patients with genetic mosaicism for KRT10 mutation and palmoplantar keratoderma
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 10, type I (KRT10)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     severe or mild phenotype
    nonsense   truncated protein homozygous nonsense mutation , leading to a premature termination codon
    Remark(s)