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Quoted phrase not found in phrase index: "Epidermolysis bullosa simplex 1A, generalized severe"
Page 1
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC. Hon KL, et al. Curr Pediatr Rev. 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. Curr Pediatr Rev. 2022. PMID: 34036913 Review.
We performed a review of existing literature in the English language on EB via PubMed Clinical Queries, using key words such as "epidermolysis bullosa", "congenital" and "children". We reviewed EB based on the following subheadings: epidemiology, diagnosis, therapy, …
We performed a review of existing literature in the English language on EB via PubMed Clinical Queries, using key words such as "epidermo …
Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.
Guide SV, Gonzalez ME, Bağcı IS, Agostini B, Chen H, Feeney G, Steimer M, Kapadia B, Sridhar K, Quesada Sanchez L, Gonzalez F, Van Ligten M, Parry TJ, Chitra S, Kammerman LA, Krishnan S, Marinkovich MP. Guide SV, et al. N Engl J Med. 2022 Dec 15;387(24):2211-2219. doi: 10.1056/NEJMoa2206663. N Engl J Med. 2022. PMID: 36516090 Clinical Trial.
BACKGROUND: Dystrophic epidermolysis bullosa is a rare genetic blistering skin disease caused by mutations in COL7A1, which encodes type VII collagen (C7). ...CONCLUSIONS: Complete wound healing at 3 and 6 months in patients with dystrophic epidermolysis b …
BACKGROUND: Dystrophic epidermolysis bullosa is a rare genetic blistering skin disease caused by mutations in COL7A1, which en …
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 …
Keratins and skin disease.
Knöbel M, O'Toole EA, Smith FJ. Knöbel M, et al. Cell Tissue Res. 2015 Jun;360(3):583-9. doi: 10.1007/s00441-014-2105-4. Epub 2015 Jan 27. Cell Tissue Res. 2015. PMID: 25620412 Review.
Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory …
Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis …
Epidermolysis bullosa in oral health: clinical manifestations and salivary alterations.
de Azevedo BLR, Roni GM, Dettogni RS, Torrelio RMF, Leal LF, da Gama-de-Souza LN. de Azevedo BLR, et al. Clin Oral Investig. 2023 Jun;27(6):3117-3124. doi: 10.1007/s00784-023-04917-3. Epub 2023 Feb 13. Clin Oral Investig. 2023. PMID: 36781477
Epidermolysis bullosa (EB) is an inherited disease characterized by the fragility of the skin and mucous membranes. ...CLINICAL RELEVANCE: Severe cases of EB show broad alterations in the oral mucosa, whereas the saliva needs to be better evaluated....
Epidermolysis bullosa (EB) is an inherited disease characterized by the fragility of the skin and mucous membranes. ...CLINICA …
Ultrastructure and molecular pathogenesis of epidermolysis bullosa.
Shinkuma S, McMillan JR, Shimizu H. Shinkuma S, et al. Clin Dermatol. 2011 Jul-Aug;29(4):412-9. doi: 10.1016/j.clindermatol.2011.01.010. Clin Dermatol. 2011. PMID: 21679868 Review.
Epidermolysis bullosa (EB) is classified into the three major subtypes depending on the level of skin cleavage within the epidermal keratinocyte or basement membrane zone. ...This contribution reviews TEM findings in the EB subtypes and discusses the importance of …
Epidermolysis bullosa (EB) is classified into the three major subtypes depending on the level of skin cleavage within the epid …
Pathogenesis of mechanobullous disorders.
Bruckner-Tuderman L. Bruckner-Tuderman L. Exp Dermatol. 1992 Oct;1(3):115-20. doi: 10.1111/j.1600-0625.1992.tb00001.x. Exp Dermatol. 1992. PMID: 1365310 Review.
Genetic linkage was established between the keratin gene clusters and epidermolysis bullosa simplex, and keratin mutations were identified in several patients. ...Genetic linkage was established between the collagen VII gene and both dominant and recessive su …
Genetic linkage was established between the keratin gene clusters and epidermolysis bullosa simplex, and keratin mutati …
Epidermolysis Bullosa in children: the central role of the pediatrician.
Marchili MR, Spina G, Roversi M, Mascolo C, Pentimalli E, Corbeddu M, Diociaiuti A, El Hachem M, Villani A. Marchili MR, et al. Orphanet J Rare Dis. 2022 Apr 4;17(1):147. doi: 10.1186/s13023-021-02144-1. Orphanet J Rare Dis. 2022. PMID: 35379269 Free PMC article.
Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and more than 35 EB subtypes. ...
Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocu …
Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review.
Xie D, Bilgic-Temel A, Abu Alrub N, Murrell DF. Xie D, et al. Pediatr Dermatol. 2019 Jul;36(4):430-436. doi: 10.1111/pde.13866. Epub 2019 Jun 9. Pediatr Dermatol. 2019. PMID: 31177584
BACKGROUND: Epidermolysis bullosa (EB) is a group of rare genetic skin diseases characterized by the gene mutations encoding adhesion proteins within the skin. ...The most robust finding was nonspecific scarring alopecia in all dystrophic EB (DEB) patients and nonsp …
BACKGROUND: Epidermolysis bullosa (EB) is a group of rare genetic skin diseases characterized by the gene mutations encoding a …
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Bergson S, Daniely D, Bomze D, Mohamad J, Malovitski K, Meijers O, Briskin V, Bihari O, Malchin N, Israeli S, Mashiah J, Falik-Zaccai T, Avitan-Hersh E, Eskin-Schwartz M, Allon-Shalev S, Sarig O, Sprecher E, Samuelov L. Bergson S, et al. Pediatr Dermatol. 2023 Nov-Dec;40(6):1021-1027. doi: 10.1111/pde.15440. Epub 2023 Oct 12. Pediatr Dermatol. 2023. PMID: 37827535
BACKGROUND: Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal-epidermal junction, EB is sub-classified into fo …
BACKGROUND: Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding compon …
167 results