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GTR Home > Conditions/Phenotypes > Ichthyosis, annular epidermolytic, 2

Ichthyosis, annular epidermolytic, 2

Summary

Annular epidermolytic ichthyosis-2 (AEI2) is characterized by erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. Some patients experience intermittent severe flares of generalized annular and polycyclic erythematous scaling plaques (Sybert et al., 1999; Zaki et al., 2018). For a discussion of genetic heterogeneity of AEI, see AEI1 (607602). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK, KRT1
    Summary: keratin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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