DEBRA International Clinical Practice Guidelines specify that genetic testing is always recommended for the diagnosis of EB type
Despite being guideline-recommended,
ONLY 56% OF PATIENTS WITH EB
have had genetic testing to confirm type5
DEBRA=Dystrophic Epidermolysis Bullosa Research Association.
Cost can be a barrier to genetic testing, but sponsored testing is now available for eligible patients.
Learn about Decode DEB
Genetic testing can accurately identify DEB type—both RDEB and DDEB. An early diagnosis and understanding of DEB severity can enable:
Proactive care that can include multidisciplinary care engagement such as psychological support for patients and families
Early surveillance and intervention for squamous cell carcinoma (SCC), internal complications, and mental health risks
Comprehensive family planning, from understanding the heritability and burden of DEB to prenatal testing and preimplantation testing to learn the prognosis of a child
Inclusion in clinical trials to provide patients the potential opportunity for access to investigational treatment
DEB is a serious genetic disorder caused by mutations in the COL7A1 gene8,9
DEB can be missed or misdiagnosed when looking at symptoms alone1,4,6,10
References: 1. Has C, Liu L, Bolling MC, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020;182(3):574-592. doi:10.1111/bjd.18128 2. Dystrophic epidermolysis bullosa. Genetic and Rare Diseases Information Center. Accessed June 13, 2022. https://rarediseases.info.nih.gov/diseases/2150/dystrophic-epidermolysis 3. Epidermolysis bullosa simplex. Genetic and Rare Diseases Information Center. Accessed June 13, 2022. https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex/ 4. Tabor A, Pergolizzi JV Jr, Marti G, Harmon J, Cohen B, Lequang JA. Raising awareness among healthcare providers about epidermolysis bullosa and advancing toward a cure. J Clin Aesthet Dermatol. 2017;10(5):36-48. 5. Feinstein JA, Jambal P, Peoples K, et al. Assessment of the timing of milestone clinical events in patients with epidermolysis bullosa from North America. JAMA Dermatol. 2019;155(2):196-203. doi:10.1001/jamadermatol.2018.4673 6. Bruckner AL, Losow M, Wisk J, et al. The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers. Orphanet J Rare Dis. 2020;15(1):1. doi:10.1186/s13023-019-1279-y 7. Condorelli AG, Dellambra E, Logli E, Zambruno G, Castiglia D. Epidermolysis bullosa–associated squamous cell carcinoma: from pathogenesis to therapeutic perspectives. Int J Mol Sci. 2019;20(22):5707. doi:10.3390/ijms20225707 8. Fortuna G, Aria M, Cepeda-Valdes R, Trevino MGM, Salas-Alanís JC. Pain in patients with dystrophic epidermolysis bullosa: association with anxiety and depression. Psychiatry Investig. 2017;14(6):746-753. doi:10.4306/pi.2017.14.6.746 9. Eichstadt S, Tang JY, Solis DC, et al. From clinical phenotype to genotypic modelling: incidence and prevalence of recessive dystrophic epidermolysis bullosa (RDEB). Clin Cosmet Investig Dermatol. 2019;12:933-942. doi:10.2147/CCID.S232547 10. Kao C-H, Chen S-J, Hwang B, Yang A-H, Hsu C-Y, Huang C-H. Junctional epidermolysis bullosa. J Chin Med Assoc. 2006;69(10):503-506. doi:10.1016/S1726-4901(09)70318-1