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Licensed Unlicensed Requires Authentication Published by De Gruyter March 28, 2017

A novel keratin 10 gene mutation causing epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) in a term neonate

Satyaranjan Pegu ORCID logo, Jaya. P. Bodani, Edmond G. Lemire and Karen I. Holfeld


Epidermolytic hyperkeratosis (EHK) is a rare skin condition characterized by erythroderma and blistering at birth, leading to generalized hyperkeratosis of varying severity in adulthood. EHK is frequently mistaken for staphylococcal scalded skin syndrome (SSSS) or epidermolysis bullosa. EHK is usually inherited in an autosomal dominant fashion, but very rare autosomal recessive families have been reported. Molecular genetic testing in this patient identified a novel homozygous keratin-10 gene (KRT10) mutation consistent with autosomal recessive inheritance. Furthermore, diagnosis was achieved by molecular genetic testing circumventing the need to perform a skin biopsy.

Corresponding author: Doctor Satyaranjan Pegu, MD, 2C 19.04, Division of Neonatology, Department of Pediatrics, Regina General Hospital, 1440 14th Avenue, Regina, S4P 0W5, Saskatchewan, Canada, Tel.: +306-766-0699, Fax: 306-766-4149

Author’s statement

  1. Conflict of interest: Authors state no conflict of interest.

Material and methods

  1. Informed consent: Informed consent has been obtained from all individuals included in this study.

  2. Ethical approval: The research related to human subject use has complied with all the relevant national regulations, and institutional policies, and is in accordance with the tenets of the Helsinki Declaration, and has been approved by the authors’ institutional review board or equivalent committee.

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Article note:

Dr Satyaranjan Pegu and Dr Jaya. P. Bodani were involved in the patient management and preparing the manuscript. Dr Edmond G. Lemire and Dr Karen I. Holfeld were involved in the diagnosis and reviewing the manuscript.

Received: 2016-08-20
Accepted: 2017-02-09
Published Online: 2017-03-28
Published in Print: 2017-03-26

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