Testing for dystrophic epidermolysis bullosa (DEB)

It’s critical to properly determine if a patient has DEB so that its unique and serious complications can be proactively managed

Three methods are currently used for diagnosis, but ONLY skin biopsy and genetic testing can confirm EB type1-5

Symptoms2-5

  • Relying on symptoms alone leads to an incomplete diagnosis because symptoms can overlap across EB types and across non-EB blistering skin conditions

Biopsy1

  • Though speed of biopsy is critical in some instances, and biopsy can be a useful step in diagnosing DEB, it’s only as reliable as the skin sample taken, and results can sometimes be inconclusive
  • DEB subtype (RDEB and DDEB) is difficult to determine through biopsy and may not provide sufficient prognostic information

Genetic Testing1

The preferred and guideline-recommended approach for an accurate diagnosis. EB type is linked to mutations in different genes, making genetic testing the most accurate way to confirm type.

  • Genetic testing can pinpoint mutations in the COL7A1 gene and most accurately identify DEB
    • The patient and patients’ parents (when possible) should be tested to provide reliable genetic counseling and risk calculation for family members and offspring
    • The pathogenic sequence variants will provide clarity about the definitive diagnosis, prognosis, and inheritance for the patient and patients’ family
  • Genetic testing can easily be done by analyzing blood, saliva, or buccal smear (cheek swab)

Guidelines recommend genetic testing1

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 Krystal Decode DEBTM

An accurate DEB diagnosis through genetic testing can inform proactive disease management1,5-7

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

Understanding DEB

DEB is a serious genetic disorder caused by mutations in the COL7A1 gene8,9

Recognizing DEB

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 August 31, 2021. https://rarediseases.info.nih.gov/diseases/2150/dystrophic-epidermolysis 3. Epidermolysis bullosa simplex. Genetic and Rare Diseases Information Center. Accessed August 31, 2021. 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