Current and future management of dystrophic epidermolysis bullosa (DEB)

DEB is a lifelong disorder that requires lifelong, multidisciplinary care1,2

Current treatment for DEB

Currently there are no treatments that address the underlying cause of the disease. Current standard of care is supportive, focused on managing symptoms and treating complications.

Care for DEB requires close monitoring and treatment for squamous cell carcinoma (SCC) and other complications, and involves a multidisciplinary care team to address patient symptoms, including but not limited to3,4:

Managing symptoms with supportive care

  • Itch: Moisturizers and topical steroids
  • Pain: Pain medications
  • Wound protection: Dressings and bandages

Managing complications

Examples of treatment approaches include:

  • Anemia: Iron supplements, iron intravenously, blood transfusion
  • Eye: Preventing dryness, treating inflammation, and injury avoidance
  • GI strictures: Esophageal dilation
  • Infections: Antibiotics
  • Lack of proper nutrition or growth delays: An enteral feeding tube may be used to provide nutrition
  • Mitten hands: Surgery
  • SCC: Excision, chemotherapy, and radiotherapy

Future treatment for DEB

Gene replacement therapies that address the underlying cause of the disease (mutations in the COL7A1 gene resulting in a lack of functional collagen VII protein) are in late-stage development.5,6

Knowing it’s DEB allows a more proactive approach.7,8

Recognizing DEB

DEB can be missed or misdiagnosed when looking at symptoms alone1,8-10

Testing for DEB

Diagnosing DEB accurately is critical8

References: 1. 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 2. 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 3. Denyer J, Pillay E, Clapham J. Best practice guidelines for skin and wound care in epidermolysis bullosa 2017. Wounds International. May 3, 2017. Accessed June 13, 2022. 4. 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. 5. 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 6. Lwin SM, Syed F, Di W-L, et al. Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa. JCI Insight. 2019;4(11);e126243. doi:10.1172/jci.insight.126243 7. 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 8. 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 9. 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 10. 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.