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Quoted phrase not found in phrase index: "Epidermolysis bullosa simplex 1A, generalized severe"
Page 1
Epidermolysis bullosa.
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH. Bardhan A, et al. Nat Rev Dis Primers. 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. Nat Rev Dis Primers. 2020. PMID: 32973163 Review.
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. A broad phenotypic spectrum has been described, with potentially severe …
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous frag …
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.
Epidermolysis bullosa (EB) is a group of rare congenital genetic conditions that result in painful blistering of the skin and mucous membranes, which occur with minor trauma or friction. ...The underlying mechanism is a defect in attachment between or within the epi …
Epidermolysis bullosa (EB) is a group of rare congenital genetic conditions that result in painful blistering of the skin and …
Investigational Treatments for Epidermolysis Bullosa.
Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK. Hou PC, et al. Am J Clin Dermatol. 2021 Nov;22(6):801-817. doi: 10.1007/s40257-021-00626-3. Epub 2021 Jul 22. Am J Clin Dermatol. 2021. PMID: 34292508 Review.
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin disorders characterized by skin fragility following minor trauma, usually present since birth. EB can be categorized into four classical subtypes, EB simplex, junctional EB, …
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin disorders characterized by skin fragilit …
Inherited epidermolysis bullosa: update on the clinical and genetic aspects.
Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Mariath LM, et al. An Bras Dermatol. 2020 Sep-Oct;95(5):551-569. doi: 10.1016/j.abd.2020.05.001. Epub 2020 Jul 8. An Bras Dermatol. 2020. PMID: 32732072 Free PMC article. Review.
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being …
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and …
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 …
Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A. Martina E, et al. Toxins (Basel). 2021 Feb 5;13(2):120. doi: 10.3390/toxins13020120. Toxins (Basel). 2021. PMID: 33562846 Free PMC article.
The best-reported evidence concerns focal idiopathic hyperhidrosis, Raynaud phenomenon, suppurative hidradenitis, Hailey-Hailey disease, epidermolysis bullosa simplex Weber-Cockayne type, Darier's disease, pachyonychia congenita, aquagenic keratoderma, alopec …
The best-reported evidence concerns focal idiopathic hyperhidrosis, Raynaud phenomenon, suppurative hidradenitis, Hailey-Hailey disease, …
Annular bullous diseases.
Sussman M, Zhai L, Morquette A, Huang S, Hsu S. Sussman M, et al. Clin Dermatol. 2022 Sep-Oct;40(5):516-528. doi: 10.1016/j.clindermatol.2021.12.012. Epub 2022 Jan 1. Clin Dermatol. 2022. PMID: 34979265 Review.
This group of diverse conditions consists of bullous pemphigoid; pemphigoid gestationis; epidermolysis bullosa simplex, Dowling-Meara type; linear immunoglobulin A bullous dermatosis; chronic bullous disease of childhood; anti-p200 pemphigoid; subcorneal pust …
This group of diverse conditions consists of bullous pemphigoid; pemphigoid gestationis; epidermolysis bullosa simplex, …
Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L. Zrelski MM, et al. Cells. 2021 Sep 19;10(9):2480. doi: 10.3390/cells10092480. Cells. 2021. PMID: 34572129 Free PMC article. Review.
Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies. The most common disorder is autosomal recessive disease epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which is characteri …
Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies. The most common diso …
Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study.
Kern JS, Sprecher E, Fernandez MF, Schauer F, Bodemer C, Cunningham T, Löwe S, Davis C, Sumeray M, Bruckner AL, Murrell DF; EASE investigators. Kern JS, et al. Br J Dermatol. 2023 Jan 23;188(1):12-21. doi: 10.1093/bjd/ljac001. Br J Dermatol. 2023. PMID: 36689495 Clinical Trial.
BACKGROUND: Epidermolysis bullosa (EB) is a heterogeneous group of rare, difficult-to-treat, inherited multisystem diseases affecting epithelial integrity. ...AEs were predominantly of mild-to-moderate intensity (4.6% were severe). CONCLUSIONS: Oleogel-S10 is …
BACKGROUND: Epidermolysis bullosa (EB) is a heterogeneous group of rare, difficult-to-treat, inherited multisystem diseases af …
Genetic skin diseases.
Francis JS. Francis JS. Curr Opin Pediatr. 1994 Aug;6(4):447-53. doi: 10.1097/00008480-199408000-00016. Curr Opin Pediatr. 1994. PMID: 7951667 Review.
Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin diseases, epidermolysis bullosa and the ichthyoses. Mutations in keratins K5 or K14 are found in epidermolysis bullosa …
Recent advances in molecular genetics have led to major breakthroughs in the understanding of two heterogeneous groups of inherited skin dis …
212 results