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Glossary Epidermolysis Bullosa Simplex

genetic disorder causing fragile skin that blisters easily

Epidermolysis Bullosa Simplex (EBS) is a genetic skin disorder characterized by fragile skin that easily blisters, especially in response to minor injuries or friction. This condition occurs due to mutations in genes responsible for producing keratin proteins, which are essential for skin integrity.

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research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility

189 citations , July 2009 in “The Journal of clinical investigation/The journal of clinical investigation”

This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.

research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex

40 citations , November 2021 in “International Journal of Molecular Sciences”

This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.

research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

26 citations , June 2004 in “Clinical Genetics”

This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.

research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

18 citations , January 2018 in “BMC dermatology”

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

14 citations , May 2017 in “Journal of Investigative Dermatology”

This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

research Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives

9 citations , August 2024 in “International Journal of Molecular Sciences”

This review explores epidermolysis bullosa simplex subtypes caused by mutations in KRT5 or KRT14 and summarizes gene expression patterns and molecular mechanisms, without presenting new experimental results.

research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families

3 citations , July 2024 in “Frontiers in Medicine”

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity

3 citations , January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.

research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5

3 citations , January 2019 in “Journal of Dermatology”

This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.

research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type

2 citations , August 2012 in “Journal of the American Academy of Dermatology”

This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.

research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation

1 citations , January 2014 in “International Journal of Trichology”

This case report describes a 35-year-old woman with diffuse partial woolly hair occurring alongside epidermolysis bullosa with mottled pigmentation.

research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)

September 2019 in “Journal of Investigative Dermatology”

This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.

research Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro

20 citations , November 2003 in “American Journal Of Pathology”

Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.

research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)

July 2011 in “Journal of Pediatric and Adolescent Gynecology”

This report discusses a teenager with blistering of localized epidermolysis bullosa simplex—Weber Cockayne type, recommending referral to dermatology, and includes no new clinical trials or broader conclusions.

research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.

November 2025 in “Journal of Investigative Dermatology”

KLHL24-mutant stem cells help understand skin and heart disease.

research Epidermolysis bullosa in animals: a review

33 citations , October 2014 in “Veterinary Dermatology”

This review discusses the molecular biology, diagnosis, and pathology of epidermolysis bullosa in animals and reports no new clinical findings.

research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa

October 2023 in “Pediatric dermatology”

This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.

research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin

April 2023 in “Journal of Investigative Dermatology”

This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.

research Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review

June 2019 in “Pediatric Dermatology”

This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.

research Inherited epidermolysis bullosa: clinical and therapeutic aspects

32 citations , April 2013 in “Anais Brasileiros de Dermatologia”

This article reviews the diagnosis and management of inherited epidermolysis bullosa and reports no new clinical findings; it emphasizes the importance of clinical and histopathological evaluation.

research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

44 citations , January 2017 in “Journal of Investigative Dermatology”

This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.

research Keratins of the Human Hair Follicle

276 citations , January 2005 in “International review of cytology”

More research is needed to understand how hair keratins work and their role in hair disorders.

research Keratin disorders: from gene to therapy

109 citations , September 2011 in “Human molecular genetics online/Human molecular genetics”

This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.

research Keratins and disease at a glance

87 citations , September 2012 in “Journal of Cell Science”

This review discusses the role of keratins in providing mechanical resilience to epithelial tissues and highlights recent therapeutic approaches for keratin diseases, but reports no new experimental findings.

research Keratins and skin disease

69 citations , January 2015 in “Cell & tissue research/Cell and tissue research”

Keratin mutations cause skin diseases and could lead to new treatments.

research Mechanical forces in skin disorders

65 citations , March 2018 in “Journal of Dermatological Science”

This review discusses the role of mechanical forces in skin homeostasis and disease development, including their impact on conditions like keloids, androgenetic alopecia, and acral melanoma, and reports no clinical results; the authors propose modifying these forces as a potential therapeutic strategy.

research The keratins and their disorders

53 citations , September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics”

This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.

research Keratins: Dynamic, flexible structural proteins of epithelial cells

13 citations , May 2001 in “Current problems in dermatology”

Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.

research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14

March 2024 in “International journal of molecular sciences”

In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.

research 559 Visualization of sweat suppression following botulinum toxin A by soluble microneedle arrays

April 2016 in “Journal of Investigative Dermatology”

This study found that administering botulinum toxin A via Flex-PADs to mouse footpads inhibited sweating similarly to traditional injections, suggesting a promising patient-friendly delivery method for hyperhidrosis treatment.