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Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial

Bo Liang¹, Tao Yuan¹, Yi Zhou¹

¹Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China, Institute of Dermatology, Anhui Medical University, Hefei, Anhui, China, Key Laboratory of Dermatology, Anhui Medical University, Hefei, Anhui, China.

European Journal of Dermatology : EJD

|July 16, 2020

Abstract

Background:

Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI.

Objectives:

We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity.

Materials And Methods:

We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations.

Results:

The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > C in KRT1 was detected in all nine patients.

Conclusion:

This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis.

Keywords:

KRT1 gene annular epidermolytic ichthyosis (AEI)bullous congenital ichthyosiform erythroderma (BCIE)palmoplantar keratosis (PPK)whole-exome sequencing (WES)

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