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Article

A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.

Pediatric dermatology - 1 Nov 2018

Zaki Theodore D, Yoo Ki-Young, Kassardjian Michael, Choate Keith A

Abstract excerpt

Annular epidermolytic ichthyosis (AEI; Online Mendelian Inheritance in Man [OMIM]# 607602) is a rare subtype of epidermolytic ichthyosis that is characterized by polycyclic, migratory erythematous and scaly plaques. It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory...

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Source

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Identifiers

PMID: 30152556
DOI: 10.1111/pde.13643
PMCID: PMC7903949

Genes

KRT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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