Annular epidermolytic ichthyosis

Definition:

Annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis (CIEHK), is a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. AEI is an autosomal dominant disorder characterized by intermittent development of polycyclic, erythematous, scaly plaques on the trunk and proximal extremities. Mutations in keratin 10 or 1 have been identified in AEI.

References:

[1]. Aditi Jha, et al. Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma. Indian J Dermatol Venereol Leprol. 2015 Mar-Apr;81(2):194-7. [Content Brief]

[2]. G Y Joh, et al. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol. 1997 Mar;108(3):357-61. [Content Brief]

[3]. V P Sybert, et al. Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet. 1999 Mar;64(3):732-8. [Content Brief]

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