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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 …
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 now recognize four major types of EB, depending on the location of the target proteins and level of the blisters: EB …
Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural protein …
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. ...Novel mutations were found in the COL7A1 gene in two patients namely DDEB c.6253G>T and RDEB c.6740C>T. Two EB Simplex …
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogen …
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 …
Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
Mellado F, Fuentes I, Palisson F, I Vergara J, Kantor A. Mellado F, et al. Cornea. 2018 Apr;37(4):442-447. doi: 10.1097/ICO.0000000000001525. Cornea. 2018. PMID: 29384803
PURPOSE: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations. METHODS: A cross-sectional study was conducted in 58 patients with EB together with the Dyst …
PURPOSE: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB …
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 dys …
Skin and wound care in epidermolysis bullosa (EB) is specific both to the type of EB and to individual wounds wi …
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M, Paul S, Molina G, Sepúlveda L, Araya I, Soto R, Arriagada C, Lucky AW, Mellerio JE, Cornwall R, Alsayer F, Schilke R, Antal MA, Castrillón F, Paredes C, Serrano MC, Clark V. Krämer S, et al. Spec Care Dentist. 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511. Spec Care Dentist. 2020. PMID: 33202040 Free PMC article.
BACKGROUND: Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features. ...Each chapter provides recommendations on the management of the different clinical procedures within dental practice, highlighting the …
BACKGROUND: Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral feature …
Application of topical gentamicin-a new era in the treatment of genodermatosis.
Wang S, Yang Z, Liu Y, Zhao MT, Zhao J, Zhang H, Liu ZY, Wang XL, Ma L, Yang YH. Wang S, et al. World J Pediatr. 2021 Dec;17(6):568-575. doi: 10.1007/s12519-021-00469-2. Epub 2021 Nov 17. World J Pediatr. 2021. PMID: 34787828 Review.
However, in the past decade, there were considerable interests in therapeutic approaches in treating hereditary diseases. Some of the genodermatosis is caused by nonsense mutations that create premature termination codons and lead to the production of truncated or non-func …
However, in the past decade, there were considerable interests in therapeutic approaches in treating hereditary diseases. Some of the …
36 results