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GTR Home > Conditions/Phenotypes > Epidermolytic hyperkeratosis 2B, autosomal recessive

Epidermolytic hyperkeratosis 2B, autosomal recessive

Summary

Autosomal recessive epidermolytic hyperkeratosis-2B (EHK2B) is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases (summary by Terheyden et al., 2009). For a discussion of genetic heterogeneity of epidermolytic hyperkeratosis, see EHK1 (113800). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BCIE, BIE, CK10, EHK, EHK2, EHK2A, EHK2B, IHL, K10, KPP, KRT10
    Summary: keratin 10

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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