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Page 1
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. ...CONCLUSIONS: This study reveals the general rules governing genotype-phenotype correlations, rare phenotypes and complex genotypes. ...
BACKGROUND: Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic blistering disorders. ...CONCLUS …
Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.
Liy-Wong C, Tarango C, Pope E, Coates T, Bruckner AL, Feinstein JA, Schwieger-Briel A, Hubbard LD, Jane C, Torres-Pradilla M, Zmazek M, Lara-Corrales I. Liy-Wong C, et al. Orphanet J Rare Dis. 2023 Feb 23;18(1):38. doi: 10.1186/s13023-022-02448-w. Orphanet J Rare Dis. 2023. PMID: 36823529 Free PMC article. Review.
BACKGROUND: Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. ...Information from these surveys was collated and used by the panel …
BACKGROUND: Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines ou …
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. ...RESULTS: Pathogenic variants were identified in the COL7A1 gene in seven patients, namely Dominant Dystrophic EB (DDE …
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogen …
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. AIMS: To provide (a) a complete review of the oral manifestations in those living with each type of inherited EB, (b) the current best pr …
BACKGROUND: Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral feature …
Current Treatment Landscape for Dystrophic Epidermolysis Bullosa: From Surgical Management to Emerging Gene Therapies and Novel Skin Grafts.
Villavisanis DF, Perrault DP, Kiani SN, Cholok D, Fox PM. Villavisanis DF, et al. J Hand Surg Am. 2024 May;49(5):472-480. doi: 10.1016/j.jhsa.2023.10.022. Epub 2023 Dec 11. J Hand Surg Am. 2024. PMID: 38085193 Review.
Epidermolysis bullosa is a genetic skin disorder characterized by blister formation from mechanical trauma. Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene presenting as generalized blisters from birth, wh …
Epidermolysis bullosa is a genetic skin disorder characterized by blister formation from mechanical trauma. Dystrophic …
Haplotype-based non-invasive prenatal diagnosis of recessive dystrophic epidermolysis bullosa via targeted capture sequencing of maternal plasma.
Wang J, Gao P, Cao Q, Chen F, Song J, Wang C, Dou J, Wu Y, Niu Q, Li J, Li M, Lu D. Wang J, et al. J Dermatol. 2023 Jul;50(7):946-950. doi: 10.1111/1346-8138.16760. Epub 2023 Mar 7. J Dermatol. 2023. PMID: 36880304
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe hereditary skin disease, caused by mutations in the COL7A1. ...Accordingly, we conducted a study in which one couple at high risk of having a fetus with RDEB were recruited and tested by h …
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe hereditary skin disease, caused by mutations in …
The utility of dermal fibroblasts in treatment of skin disorders: A paradigm of recessive dystrophic epidermolysis bullosa.
Shams F, Rahimpour A, Vahidnezhad H, Hosseinzadeh S, Moravvej H, Kazemi B, Rajabibazl M, Abdollahimajd F, Uitto J. Shams F, et al. Dermatol Ther. 2021 Jul;34(4):e15028. doi: 10.1111/dth.15028. Epub 2021 Jun 28. Dermatol Ther. 2021. PMID: 34145697 Review.
Dermal fibroblasts are the most accessible cells in the skin that have gained significant attention in cell therapy. Applying dermal fibroblasts' regenerative capacity can introduce new patterns to develop cell-based therapies to treat skin disorders. ...Here, we ai …
Dermal fibroblasts are the most accessible cells in the skin that have gained significant attention in cell therapy. Applying dermal …
Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: repair of the extracellular matrix.
Tolar J, Wagner JE. Tolar J, et al. Lancet. 2013 Oct 5;382(9899):1214-23. doi: 10.1016/S0140-6736(13)61897-8. Lancet. 2013. PMID: 24095195 Free PMC article. Review.
Contrary to the prevailing professional opinion of the past few decades, recent experimental and clinical data support the fact that protein replacement therapy by allogeneic blood and marrow transplantation is not limited to freely diffusible molecules such as enzymes, bu …
Contrary to the prevailing professional opinion of the past few decades, recent experimental and clinical data support the fact that protein …
Electrochemotherapy, a local treatment for squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa.
Bartolo J, Farricha V, Carvalhal S, Moura C, Abecasis N. Bartolo J, et al. Dermatol Ther. 2020 Nov;33(6):e14093. doi: 10.1111/dth.14093. Epub 2020 Sep 7. Dermatol Ther. 2020. PMID: 32720460
Epidermolysis Bullosa (EB) is a rare group of diseases caused by genetic variants in skin structural proteins. EB is characterized by varying degrees of skin fragility, blisters and impaired wound healing, and is classified based on the ultrastructural levels of ski …
Epidermolysis Bullosa (EB) is a rare group of diseases caused by genetic variants in skin structural proteins. EB is character …
Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.
Atanasova VS, Pourreyron C, Farshchian M, Lawler M, Brown CA 4th, Watt SA, Wright S, Warkala M, Guttmann-Gruber C, Hofbauer JP, Fuentes I, Prisco M, Rashidghamat E, Has C, Salas-Alanis JC, Palisson F, Hovnanian A, McGrath JA, Mellerio JE, Bauer JW, South AP. Atanasova VS, et al. Clin Cancer Res. 2019 Jun 1;25(11):3384-3391. doi: 10.1158/1078-0432.CCR-18-2661. Epub 2019 Mar 7. Clin Cancer Res. 2019. PMID: 30846478 Free PMC article.
PURPOSE: Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying why patients …
PURPOSE: Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the …
20 results