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.
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.
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.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
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.
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.
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.
22 citations
,
March 2023 in “Bioengineering” This review discusses stem cell therapy as a promising treatment for epidermolysis bullosa, highlighting preliminary successes in treating skin lesions but noting the need for further research on effectiveness and safety.
21 citations
,
November 2009 in “Dermatologic Clinics” This review discusses hair abnormalities in various epidermolysis bullosa subtypes and reports no new clinical findings.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
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.
15 citations
,
November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
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.
12 citations
,
May 2016 in “British Journal of Dermatology” This report describes a rare case of epidermolysis bullosa acquisita in a child developing during therapy with squaric acid dibutyl ester for alopecia areata, suggesting a possible link between the medication and disease onset.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
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.
9 citations
,
July 2021 in “Dermatology and Therapy” This review highlights promising recent advances in therapies for epidermolysis bullosa, including gene therapy and stem cell approaches, but reports no definitive cures and emphasizes the need for further research.
7 citations
,
November 2020 in “Journal of Tissue Viability” In this study, follicular unit extraction grafting using a patient's own scalp follicles showed promise in healing chronic ulcers in a woman with recessive dystrophic epidermolysis bullosa.
5 citations
,
January 2015 in “Skin appendage disorders” This study found that pigmented hair-thickening fibers improved the appearance of scalp alopecia in patients with epidermolysis bullosa, although they may cause pruritus and should be used cautiously.
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.
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.
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.
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.
1 citations
,
April 2024 in “The Journal of Dermatology” This case study reports that a woman with epidermolysis bullosa acquisita experienced severe cicatricial alopecia and total nail loss after discontinuing treatment for two years, highlighting the potential for serious effects if the condition is not managed.
1 citations
,
June 2023 in “Medicina” In this study, all 26 patients with epidermolysis bullosa were found to have extensive dental caries, with various dental and oral complications varying by EB type, due in part to inadequate oral care and associated physical limitations.
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.
March 2025 in “Journal of Investigative Dermatology” In this survey study, 44% of epidermolysis bullosa patients who tried cannabinoids reported effective symptom management, particularly pain relief, but concerns about cost, stigma, and accessibility remain significant. Further research is necessary to confirm these findings and optimize cannabinoid therapies for EB.
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.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
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.