Page 77 - GPD-3-3

Gene & Protein in Disease Gene therapy progress for DEB

Conflict of interest Cosmet Investig Dermatol. 2019;12:933-942.

The authors declare that they have no competing interests. doi: 10.2147/CCID.S232547
8. Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis
Author contributions bullosa. II. Type VII collagen mutations and phenotype-

Conceptualization: Xianqing Wang, Ming Li, Wenxin Wang genotype correlations in the dystrophic subtypes. J Med
Writing – original draft: Xianqing Wang, Wei He Genet. 2006;44(3):181-192.
Writing – review & editing: Xianqing Wang, Josie Ward, doi: 10.1136/jmg.2006.045302
Ming Li, Wenxin Wang 9. Wertheim-Tysarowska K, Sobczyńska-Tomaszewska A,
Kowalewski C, et al. The COL7A1 mutation database. Hum
Ethics approval and consent to participate Mutat. 2012;33(2):327-331.
Not applicable. doi: 10.1002/humu.21651

Consent for publication 10. Watanabe M, Natsuga K, Shinkuma S, Shimizu H. Epidermal
aspects of Type VII collagen: Implications for dystrophic
Not applicable. epidermolysis bullosa and epidermolysis bullosa acquisita.
J Dermatol. 2018;45(5):515-521.
Availability of data
doi: 10.1111/1346-8138.14222
Not applicable.
11. Van Den Akker PC, Jonkman MF, Rengaw T, et al. The
References international dystrophic epidermolysis bullosa patient
registry: An online database of dystrophic epidermolysis
1. Has C, Bauer JW, Bodemer C, et al. Consensus reclassification bullosa patients and their COL7A1 mutations. Hum Mutat.
of inherited epidermolysis bullosa and other disorders with 2011;32(10):1100-1107.
skin fragility. Br J Dermatol. 2020;183(4):614-627.
doi: 10.1002/humu.21551
doi: 10.1111/bjd.18921
12. Uitto J, Has C, Vahidnezhad H, Youssefian L, Bruckner-
2. Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK. Tuderman L. Molecular pathology of the basement
Investigational treatments for epidermolysis bullosa. Am J membrane zone in heritable blistering diseases: The
Clin Dermatol. 2021;22(6):801-817. paradigm of epidermolysis bullosa. Matrix Biol. 2017;57-
58:76-85.
doi: 10.1007/s40257-021-00626-3
doi: 10.1016/j.matbio.2016.07.009
3. Fine JD, Bruckner-Tuderman L, Eady RAJ, et al. Inherited
epidermolysis bullosa: Updated recommendations 13. Dang N, Murrell DF. Mutation analysis and characterization
on diagnosis and classification. J Am Acad Dermatol. of COL7A1 mutations in dystrophic epidermolysis bullosa.
2014;70(6):1103-1126. Exp Dermatol. 2008;17(7):553-568.
doi: 10.1016/j.jaad.2014.01.903 doi: 10.1111/j.1600-0625.2008.00723.x
4. Fine JD. Epidemiology of inherited epidermolysis bullosa 14. Bruckner-Tuderman L. Dystrophic epidermolysis
based on incidence and prevalence estimates from the bullosa: Pathogenesis and clinical features. Dermatol Clin.
national epidermolysis bullosa registry. JAMA Dermatol. 2010;28(1):107-114.
2016;152(11):1231.
doi: 10.1016/j.det.2009.10.020
doi: 10.1001/jamadermatol.2016.2473
15. Tang JY, Marinkovich MP, Lucas E, et al. A systematic
5. Petrof G, Papanikolaou M, Martinez AE, et al. The literature review of the disease burden in patients with
epidemiology of epidermolysis bullosa in England and recessive dystrophic epidermolysis bullosa. Orphanet J Rare
Wales: Data from the national epidermolysis bullosa Dis. 2021;16(1):175.
database. Br J Dermatol. 2022;186(5):843-848.
doi: 10.1186/s13023-021-01811-7
doi: 10.1111/bjd.20958
16. Togo CCG, Zidorio APC, Gonçalves VSS, Hubbard L, de
6. Bardhan A, Bruckner-Tuderman L, Chapple ILC, et al. Carvalho KMB, Dutra ES. Quality of life in people with
Epidermolysis bullosa. Nat Rev Dis Primers. 2020;6(1):78. epidermolysis bullosa: A systematic review. Qual Life Res.
2020;29(7):1731-1745.
doi: 10.1038/s41572-020-0210-0
doi: 10.1007/s11136-020-02495-5
7. Eichstadt S, Tang JY, Solis DC, et al. From clinical phenotype
to genotypic modelling: Incidence and prevalence of 17. Krämer S, Lucas J, Gamboa F, et al. Clinical practice
recessive dystrophic epidermolysis bullosa (RDEB). Clin guidelines: Oral health care for children and adults living

Volume 3 Issue 3 (2024) 8 doi: 10.36922/gpd.4047