Risks with dystrophic epidermolysis bullosa (DEB)

Patients with DEB require active and vigilant surveillance for progressive and potentially life-threatening external and internal complications1

DEB can cause significant complications and affect patients’ quality of life2

Examples of possible complications of DEB2-5

Eye problems such as corneal abrasion, infection, scarring, and poor vision development or vision loss

Infection of open skin wounds

Esophageal strictures and dilation, which can lead to digestion and nutritional growth issues

Squamous cell carcinoma (SCC)

Genitourinary complications such as urethral strictures and renal impairment

Mitten hands, leading to limited dexterity and often resulting in surgery

Anemia from iron deficiency and blood loss from open wounds

The burden of DEB can negatively affect a broad range of daily activities2

  • Interference with mobility (ability to move, bathe, eat, sleep, or participate in other physical activities like sports and exercise)
  • Physical pain beyond what is caused by wounds
  • Psychological burden, including feeling frustrated, embarrassed, worried/anxious, and/or depressed
  • Barriers to socialization, such as the ability to make new friends

SCC is one of the more serious complications of DEB

An accurate DEB diagnosis is necessary to know to proactively screen for SCC6

Cases of SCC in patients with DEB are different1,6-10

Occur more often

The incidence of SCC is higher in patients with DEB compared with the general population. As compared to other EB types, SCC occurs most often in DEB

Occur earlier

The median age at SCC diagnosis is 32.5 years in RDEB and 45 years in DDEB, occurring as early as 6 years in patients with severe RDEB

Display more aggressive and debilitating behavior

Recurrence and metastasis can occur, with both regional and distant metastasis to the lungs and other organs

In severe RDEB, can lead to increased mortality

The development of SCC frequently leads to death in patients with severe RDEB, with a median survival time of 2.4 years after first SCC

DEB wounds—whether RDEB or DDEB—can lead to SCC regardless of size or chronicity. Current guidelines recommend active and vigilant surveillance for SCC in patients with RDEB or DDEB.11,12

Learn more about DEB from EB experts

Perspectives on DEB From a Pediatric Dermatologist

Testing for DEB

Diagnosing DEB accurately is critical12

Free sponsored test available

Know whether it’s DEB with genetic testing at no charge through Decode DEB

References: 1. Christiano AM, Crollick J, Pincus S, Uitto J. Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. Exp Dermatol. 1999;8(2):146-152. doi:10.1111/j.1600-0625.1999.tb00364.x 2. 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 3. Chen VM. Eye care for EB patients: strategies to prevent blistering, scarring and vision loss. Presented at: DEBRA Care Conference; July 23, 2018. Accessed June 13, 2022. https://www.debra.org/sites/default/files/2019-12/Eye%20Care%20for%20EB%20Patients.pdf 4. EB in depth. Debra of America. Accessed June 13, 2022. https://www.debra.org/about-eb/eb-depth 5. Denyer J, Pillay E, Clapham J. Best practice guidelines for skin and wound care in epidermolysis bullosa. Wounds International. May 3, 2017. Accessed June 13, 2022. https://www.woundsinternational.com/resources/details/best-practice-guidelines-skin-and-wound-care-in-epidermolysis-bullosa 6. Fine J-D, Johnson LB, Weiner M, et al. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol. 2009;60(2):203-211. doi:10.1016/j.jaad.2008.09.035 7. Karia PS, Jambusaria-Pahlajani A, Harrington DP, Murphy GF, Qureshi AA, Schmults CD. Evaluation of American Joint Committee on Cancer, International Union Against Cancer, and Brigham and Women’s Hospital tumor staging for cutaneous squamous cell carcinoma. J Clin Oncol. 2014;32(4):327-334. 8. Robertson SJ, Orrin E, Lakhan MK, et al. Cutaneous squamous cell carcinoma in epidermolysis bullosa: a 28-year retrospective study. Acta Derm Venereol. Published online 2021;101(8):adv00523. doi:10.2340/00015555-387 9. Montaudié H, Chiaverini C, Sbidian E, Charlesworth A, Lacour J-P. Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. Orphanet J Rare Dis. 2016;11(1):117. doi:10.1186/s13023-016-0489-9 10. Eichstadt S, Barriga M, Ponakala A, et al. Phase 1/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa. JCI Insight. 2019;4(19):e130554. doi:10.1172/jci.insight.130554 11. Data on file. Krystal Biotech. 12. 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