Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14

Clinical and Experimental Dermatology
Eleni YiasemidesDédée F Murrell

Abstract

Epidermolysis bullosa simplex (EBS), the most common subtype of EB, is usually inherited as an autosomal dominant trait caused by mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) genes. Recessive EBS (R-EBS) is extremely rare. We present the first Australian patient diagnosed with R-EBS, to our knowledge, and a comprehensive review of genotypes and phenotypes of R-EBS reported cases. The female proband, of Turkish descent with consanguineous parentage, was referred to us at the age of 8 years. Clinically, she had a severe phenotype including generalized blisters, mucosal involvement and EB naevi. Immunofluorescence mapping and electron microscopy were consistent with a diagnosis of EBS. Staining for Keratin 14 (K14) was negative. The basal layer, however, reacted with monoclonal antibodies to keratins 6 (K6) and 16 (K16). Mutation screening from genomic DNA showed that the proband was homozygous for the truncation mutation Y204X in exon 3 of KRT14, and both unaffected parents were heterozygous for a single KRT14 Y204X mutation. The phenotype of our patient is reported in more detail and with longer follow-up than those of others published in the literature. The proband's phenotype was severe as an infant but impro...Continue Reading

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Citations

Oct 23, 2010·Actas dermo-sifiliográficas·R Cepeda-ValdésJ C Salas-Alanis
Oct 19, 2012·Indian Journal of Dermatology, Venereology and Leprology·Raghavendra RaoRichard Groves
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Feb 18, 2012·The Journal of Investigative Dermatology·Neil J WilsonFrances J D Smith
Feb 18, 2011·The Journal of Investigative Dermatology·Mariella D'AlessandroE Birgitte Lane
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May 8, 2010·Dermatologic Clinics·Gabriela Pohla-GuboHelmut Hintner
May 8, 2010·Dermatologic Clinics·Dédée F Murrell
Sep 20, 2017·Clinical and Experimental Dermatology·V K YenamandraG Sethuraman
Jun 10, 2019·Pediatric Dermatology·Danica XieDedee F Murrell
Sep 16, 2020·International Journal of Molecular Sciences·Alexander J HinbestChristopher G Bunick
Oct 13, 2017·Journal of the European Academy of Dermatology and Venereology : JEADV·A DiociaiutiM El Hachem

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