5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
2 citations
,
August 2004 in “Veterinary Dermatology” This case study in an 8-month-old mixed-breed dog with symptoms and histopathological findings supports a diagnosis of hereditary junctional epidermolysis bullosa, although specific genetic mutations weren't identified.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
5 citations
,
February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
1 citations
,
January 2015 in “The Journal of Dermatology” This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
80 citations
,
June 1997 in “The American Journal of Human Genetics” 51 citations
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January 1997 in “PubMed” This review outlines the genetic basis of GABEB, highlighting reduced type XVII collagen as a distinguishing marker from Herlitz JEB, and discusses potential therapeutic avenues without presenting new 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.
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.
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.
1 citations
,
May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.
14 citations
,
May 2022 in “Stem cell reports” This study reported that human induced pluripotent stem cell-derived skin organoids, used to model epidermolysis bullosa, have an epidermal-dermal junction largely lacking type VII collagen, which is important for skin structure.
518 citations
,
November 2014 in “Science” This review discusses current and experimental treatments for cutaneous wounds, emphasizing cell-based therapies and skin transplantation, but reports no new clinical results.
63 citations
,
March 2018 in “Experimental Dermatology” This review explores the physiological roles of collagen XVII in the epidermis, its involvement in stem cell maintenance, and its connections with signaling pathways, but it reports no new results.
27 citations
,
July 2013 in “Journal of Investigative Dermatology” Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
4 citations
,
January 2010 in “Journal of Veterinary Medical Science” This study used histopathological and ultrastructural analyses to differentiate between junctional epidermolysis bullosa and dermatomyositis-like disease in two juvenile dogs with skin disorders.
June 2026 in “Experimental Dermatology” This review explores the roles of laminin-332 in skin function, highlighting its involvement in epidermal cohesion, stem cell maintenance, wound healing, and potential in genetic therapies for junctional epidermolysis bullosa.
October 2020 in “Veterinary Dermatology” This review discusses autoimmune blistering diseases across species and highlights new treatment efficacy findings and ongoing trials, but it reports no new clinical results.
10 citations
,
June 2021 in “EMBO reports” This study found that in skin blister healing, hair follicle development is compromised as stem cells repair wounds at the expense of morphogenesis gene expression.
April 2017 in “Journal of Investigative Dermatology” The researchers reported that iPSCs derived from Sendai virus reprogrammed blood cells can mature into functional keratinocytes for up to 60 days, potentially offering new approaches for DEB treatment.
August 2022 in “Tissue Engineering Part A” This study observed that using ex vivo gene therapy to modify skin cells in a pre-graft model improved dermal-epidermal junction adhesion strength and maintained collagen production over time, suggesting a potential treatment approach for recessive dystrophic epidermolysis bullosa skin wounds.
November 2022 in “Journal of Investigative Dermatology” This study demonstrated that hiPSC-derived hair-bearing skin organoids lacked sufficient type VII collagen at the epidermal-dermal junction, indicating a need for further maturation to model certain forms of epidermolysis bullosa effectively.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
28 citations
,
April 1996 in “Cell biology international” This review discusses changes in keratin structure or gene expression that result in various skin disorders and reports no new clinical findings.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.