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Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M. Chen F, et al. J Eur Acad Dermatol Venereol. 2023 Feb;37(2):411-419. doi: 10.1111/jdv.18692. Epub 2022 Nov 5. J Eur Acad Dermatol Venereol. 2023. PMID: 36287101
BACKGROUND: Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic blistering disorders. ...RESULTS: A total of 441 cases (413 families) across 11 genes were included. EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), Kind …
BACKGROUND: Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic blistering disorders. ...RESULTS …
Eye Involvement and Management in Inherited Epidermolysis Bullosa.
Bachir Y, Daruich A, Marie C, Robert MP, Bremond-Gignac D. Bachir Y, et al. Drugs. 2022 Aug;82(12):1277-1285. doi: 10.1007/s40265-022-01770-8. Epub 2022 Sep 8. Drugs. 2022. PMID: 36074321 Review.
Inherited epidermolysis bullosa (EB) is a group of genetic rare diseases associated with skin fragility, which leads to the formation of blisters, erosions, and scars on the skin and mucous membranes. Epidermolysis bullosa includes four main types and …
Inherited epidermolysis bullosa (EB) is a group of genetic rare diseases associated with skin fragility, which leads to the fo …
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Arline Diana I, Tan EC, Gondokaryono SP, Koh MJ, Dwiyana RF, Rahardja JI, Yogya Y, Rafi'ee K, Suwarsa O. Arline Diana I, et al. Australas J Dermatol. 2023 Nov;64(4):e327-e332. doi: 10.1111/ajd.14121. Epub 2023 Jul 14. Australas J Dermatol. 2023. PMID: 37452458
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. ...In addition, a novel mutation in LAMA3 gene c.2649del was found in one Junctional EB (JEB) patient. CONCLUSION: The molecula …
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogen …
Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making.
Yang CS, Kroshinksy D, Cummings BM. Yang CS, et al. Am J Clin Dermatol. 2014 Oct;15(5):445-50. doi: 10.1007/s40257-014-0091-7. Am J Clin Dermatol. 2014. PMID: 25117154 Review.
Junctional epidermolysis bullosa (JEB), generalized severe (previously called JEB, Herlitz-type) has an extremely poor prognosis, with a mean age of death at 5 months old and most dead before age 3 years. ...We review the literature as well as discuss …
Junctional epidermolysis bullosa (JEB), generalized severe (previously called JEB, Herlitz-type) has an extremel …
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE. Mariath LM, et al. Clin Genet. 2021 Jan;99(1):29-41. doi: 10.1111/cge.13792. Epub 2020 Jun 29. Clin Genet. 2021. PMID: 32506467 Review.
Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype …
Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few stu …
Inherited epidermolysis bullosa: new diagnostic criteria and classification.
Intong LR, Murrell DF. Intong LR, et al. Clin Dermatol. 2012 Jan-Feb;30(1):70-7. doi: 10.1016/j.clindermatol.2011.03.012. Clin Dermatol. 2012. PMID: 22137229 Review.
Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural proteins in the skin. ...We have also included new subtypes, such as autosomal dominant junctional EB and autosomal recessive EB due to muta …
Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural protein …
Physiological and tissue-specific vectors for treatment of inherited diseases.
Toscano MG, Romero Z, Muñoz P, Cobo M, Benabdellah K, Martin F. Toscano MG, et al. Gene Ther. 2011 Feb;18(2):117-27. doi: 10.1038/gt.2010.138. Epub 2010 Oct 21. Gene Ther. 2011. PMID: 20962871 Review.
After more than 1500 gene therapy clinical trials in the past two decades, the overall conclusion is that for gene therapy (GT) to be successful, the vector systems must still be improved in terms of delivery, expression and safety. ...Impressive results were obtain …
After more than 1500 gene therapy clinical trials in the past two decades, the overall conclusion is that for gene therapy (GT …
Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
Wen D, Hunjan M, Bardhan A, Harper N, Ogboli M, Ozoemena L, Liu L, Fine JD, Chapple I, Balacco DL, Heagerty A. Wen D, et al. J Invest Dermatol. 2024 Jun;144(6):1334-1343.e14. doi: 10.1016/j.jid.2023.11.021. Epub 2023 Dec 28. J Invest Dermatol. 2024. PMID: 38157931 Free article.
Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive genodermatosis with a broad spectrum of phenotypes. ...
Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive genodermatosis with a broad spectrum of phenotypes …
Wound management for children with epidermolysis bullosa.
Denyer JE. Denyer JE. Dermatol Clin. 2010 Apr;28(2):257-64, viii-ix. doi: 10.1016/j.det.2010.01.002. Dermatol Clin. 2010. PMID: 20447488 Review.
Skin and wound care in epidermolysis bullosa (EB) is specific both to the type of EB and to individual wounds within each child. ...This article discusses current techniques of wound and dressing management for EB simplex, junctional EB, and dystrophic …
Skin and wound care in epidermolysis bullosa (EB) is specific both to the type of EB and to individual wounds within ea …
Attenuation of Severe Generalized Junctional Epidermolysis Bullosa by Systemic Treatment with Gentamicin.
Hammersen J, Neuner A, Wild F, Schneider H. Hammersen J, et al. Dermatology. 2019;235(4):315-322. doi: 10.1159/000499906. Epub 2019 May 27. Dermatology. 2019. PMID: 31132778
Severe generalized junctional epidermolysis bullosa (JEB), a lethal genodermatosis, is mainly caused by premature termination codons (PTCs) in one of the three genes encoding the anchoring protein laminin-332. ...
Severe generalized junctional epidermolysis bullosa (JEB), a lethal genodermatosis, is mainly caused by premature termi …
41 results