Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex

Minakawa, Satoko; Nakano, Hajime; Nakajima, Koji; Matsuzaki, Yasushi; Takiyoshi, Noriko; Eijiro, Akasaka; Rokunohe, Daiki; Sawamura, Daisuke

doi:10.1016/j.jdermsci.2013.08.001

Cited by 13 publications

(14 citation statements)

References 9 publications

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“…The reticulated pattern of erythema, pigmentation, or both observed in these patients appears distinct and perhaps pathognomonic and is also noted by Komori et al in a recent report. It is different from the pigmentation observed in EBS with mottled pigmentation (EBS‐MP), a condition due to different mutations in K5 (p.Pro25Leu, p.Gly138Glu, p.[Ile140AsnfsX0]+[Asp328His], p.Gly550AlafsX77), K14 (p.Met119Thr, p.Ile373GlufsX53), and EXPH5 encoding exophilin‐5 . The condition is described as mottled pigmentation that may or may not be related to healing of blisters plus punctate palmoplantar keratoderma and onychodystrophy .…”

Section: Discussionmentioning

confidence: 92%

“…The condition is described as mottled pigmentation that may or may not be related to healing of blisters plus punctate palmoplantar keratoderma and onychodystrophy . Mutations in the V1 domain of the nonhelical head domain of K5 have been found in most cases of EBS‐MP . It is unclear why this mutation results in this unique clinical phenotype, though research done by Irvine et al indicates that the nonhelical head domain of K5 may be implicated in melanosome transport.…”

Section: Discussionmentioning

confidence: 99%

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Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis

Lalor¹,

Titeux

Palisson

et al. 2018

Pediatric Dermatology

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Background/Objectives Epidermolysis bullosa is a group of diseases caused by mutations in skin structural proteins. Availability of genetic sequencing makes identification of causative mutations easier, and genotype‐phenotype description and correlation are important. We describe six patients with a keratin 5 mutation resulting in a glutamic acid to lysine substitution at position 477 (p.Glu477Lys) who have a distinctive, severe and sometimes fatal phenotype. We also perform in silico modeling to show protein structural changes resulting in instability. Methods In this case series, we collected clinical data from six patients with this mutation identified from their national or local epidermolysis bullosa databases. We performed in silico modeling of the keratin 5‐keratin 14 coil 2B complex using CCBuilder and rendered with Pymol (Schrodinger, LLC, New York, NY). Results Features include aplasia cutis congenita, generalized blistering, palmoplantar keratoderma, onychodystrophy, airway and developmental abnormalities, and a distinctive reticulated skin pattern. Our in silico model of the keratin 5 p.Glu477Lys mutation predicts conformational change and modification of the surface charge of the keratin heterodimer, severely impairing filament stability. Conclusions Early recognition of the features of this genotype will improve care. In silico analysis of mutated keratin structures provides useful insights into structural instability.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis

Lalor¹,

Titeux

Palisson

et al. 2018

Pediatric Dermatology

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“…Therefore, additional cases are required to elucidate the nature of the mutation in exon 2. The review of literature revealed frameshift mutations in exon 9 of keratin gene KRT5 (c.1649delG, c.1637del4, and c.1638_1641del‐CATG) specifically in patients with EBS‐Migr . More recently, heterozygous deletion mutation in exon 7 of KRT5 (c.1321_1332del12) was identified in a patient with EBS and childhood‐onset migratory circinate erythema .…”

Section: Discussionmentioning

confidence: 99%

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

Yalıcı-Armağan

Kabacam

Taşkıran

et al. 2020

Pediatric Dermatology

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Epidermolysis bullosa simplex migratory circinate erythema (EBS‐Migr) is an uncommon subtype of EBS. We report a case of EBS‐MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous mutation in exon 2 (missense c.591C > A) of keratin 5. This novel pathogenic mutation in KRT5 expands the molecular spectrum of this rare subtype of EBS.

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“…Skin toxicity, including maculopapular exanthema, photosensitivity and keratoacanthoma, are the most common treatmentrelated adverse events of vemurafenib, affecting more than 90% of patients. 1,2 It rarely presents with intense severity, with <1% of grade-4 toxicities reported in clinical trials. 3,4 Toxic epidermal necrolysis (TEN) is a life-threatening severe cutaneous adverse reaction.…”

Section: Toxic Epidermal Necrolysis Induced By Vemurafenib After Nivomentioning

confidence: 99%

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology

Sugai

Shinkuma

Inafuku

et al. 2016

Acad Dermatol Venereol

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Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex

Cited by 13 publications

References 9 publications

Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis

Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology

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