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Article

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.

International journal of molecular sciences - 18 Oct 2020

Diociaiuti Andrea, Castiglia Daniele, Corbeddu Marialuisa, Rotunno Roberta, Rossi Sabrina, Pisaneschi Elisa, Cesario Claudia, Condorelli Angelo Giuseppe, Zambruno Giovanna, El Hachem May

Abstract excerpt

Keratinopathic ichthyoses (KI) are a clinically heterogeneous group of keratinization disorders due to mutations in KRT1, KTR10, or KRT2 genes encoding keratins of suprabasal epidermis. Characteristic clinical features include superficial blisters and erosions in infancy and progressive development of hyperkeratosis. Histopathology shows epidermolytic hyperkeratosis. We describe the clinical, histopathological,...

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Identifiers

PMID: 33081034
DOI: 10.3390/ijms21207707
PMCID: PMC7593923

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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