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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.
We now recognize four major types of EB, depending on the location of the target proteins and level of the blisters: EB simplex (epidermolytic), junctional EB (lucidolytic), dystrophic EB (dermolytic), and Kindler syndrome (mixed levels of blistering). This contribu …
We now recognize four major types of EB, depending on the location of the target proteins and level of the blisters: EB simplex (epidermolyt …
UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.
Maier K, He Y, Wölfle U, Esser PR, Brummer T, Schempp C, Bruckner-Tuderman L, Has C. Maier K, et al. Hum Mol Genet. 2016 Dec 15;25(24):5339-5352. doi: 10.1093/hmg/ddw350. Hum Mol Genet. 2016. PMID: 27798104
Kindler syndrome (KS), a rare, autosomal recessive disorder comprises mechanical skin fragility and photosensitivity, which manifest early in life. ...We provide evidence for potential new therapeutic approaches to mitigate the progressive course of KS, for w …
Kindler syndrome (KS), a rare, autosomal recessive disorder comprises mechanical skin fragility and photosensitivity, which ma …
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.
Guerrero-Aspizua S, Conti CJ, Escamez MJ, Castiglia D, Zambruno G, Youssefian L, Vahidnezhad H, Requena L, Itin P, Tadini G, Yordanova I, Martin L, Uitto J, Has C, Del Rio M. Guerrero-Aspizua S, et al. Orphanet J Rare Dis. 2019 Jul 24;14(1):183. doi: 10.1186/s13023-019-1158-6. Orphanet J Rare Dis. 2019. PMID: 31340837 Free PMC article.
BACKGROUND: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. ...
BACKGROUND: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and …
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
EB is characterized by varying degrees of skin fragility, blisters and impaired wound healing, and is classified based on the ultrastructural levels of skin cleavage-simplex, junctional, dystrophic, and Kindler Syndrome. Squamous cell carcinoma (SCC) is the most sev …
EB is characterized by varying degrees of skin fragility, blisters and impaired wound healing, and is classified based on the ultrastructura …
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
Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive and dominant dystrophic epidermolysis bullosa" and "dominant dystrophic epidermolysis bullosa" (DDEB), and "Kindler syndrome" ( …
Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive a …
Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment.
Maier K, He Y, Esser PR, Thriene K, Sarca D, Kohlhase J, Dengjel J, Martin L, Has C. Maier K, et al. J Invest Dermatol. 2016 May;136(5):920-929. doi: 10.1016/j.jid.2015.12.039. Epub 2016 Jan 28. J Invest Dermatol. 2016. PMID: 26827766 Free article.
Kindler syndrome, a distinct type of epidermolysis bullosa, is a rare disorder caused by mutations in FERMT1, encoding kindlin-1. ...The study of this hypomorphic mutation provides evidence that low amounts of kindlin-1 are sufficient to improve the epidermal archit …
Kindler syndrome, a distinct type of epidermolysis bullosa, is a rare disorder caused by mutations in FERMT1, encoding kindlin …
Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.
Dănescu S, Has C, Senila S, Ungureanu L, Cosgarea R. Dănescu S, et al. J Eur Acad Dermatol Venereol. 2015 May;29(5):899-903. doi: 10.1111/jdv.12709. Epub 2014 Sep 8. J Eur Acad Dermatol Venereol. 2015. PMID: 25201089
RESULTS: 89 EB patients were enrolled in the study from 2006 to 2012: 58 patients with dystrophic EB (DEB), 20 with EB simplex, one patient was diagnosed with Kindler syndrome; in 10 patients, the type of EB could not be determined. ...
RESULTS: 89 EB patients were enrolled in the study from 2006 to 2012: 58 patients with dystrophic EB (DEB), 20 with EB simplex, one patient …