Last updated: March 2024
What is dystrophic epidermolysis bullosa?
Dystrophic epidermolysis bullosa (DEB) is one of the main types of epidermolysis bullosa (EB). This group of inherited skin fragility disorders is characterised by blistering of the skin and body linings with minimal injury.
There are four main types of EB which are defined by the depth at which the skin becomes blistered. There are two main layers of the skin, the epidermis (the very top layer) and the dermis. These two layers are joined at the basement membrane zone. In DEB the skin fragility and blistering occurs below the basement membrane zone (deeper down in the skin compared with the other types of EB).
Approximately 20-25% of individuals with EB have DEB. 1
What gets dystrophic epidermolysis bullosa?
DEB affects males and females equally and can affect individuals from all races and ethnicities. The more severe forms of DEB are usually diagnosed early in life as infants with the condition can be born with raw areas of skin and blistering and wounding of the skin and mouth can occur from the first day of life.
Some of the milder forms of DEB may not be diagnosed until later in life when the child starts walking and develops blisters at sites of friction from footwear or clothing.
What causes dystrophic epidermolysis bullosa?
DEB is a genetic disease. It is caused by a variants (like a spelling mistake) in the COL7A1 gene that makes type VII collagen, one of the main proteins that hold the skin together. Variants in the COL7A1 gene causes the type VII collagen protein to be weak or even absent, resulting in skin fragility and blistering with minor injury.
DEB may be inherited in either an autosomal dominant or autosomal recessive pattern. Dominant DEB (DDEB) is usually inherited from one parent who already has DEB and is generally regarded as a milder form of DEB. Recessive DEB (RDEB) occurs when both parents are carriers for the condition but do not have symptoms themselves. DEB can also occur spontaneously where there is no family history of DEB and neither of the parents are carriers for the condition.
What does dystrophic epidermolysis bullosa look like?
The different subtypes of DEB can vary greatly in severity. Skin blistering usually appears at birth or the first few weeks of life.
In DEB, the blisters and skin wounds tend to heal with scarring and milia (small white lumps). Scarring can lead to significant deformity with joint contractures and fusion of the fingers and toes. The nails often grow abnormally or may be absent. Eyes, ears, mouth, teeth, throat, gullet, genitals and urinary tract may also be affected. Damage and scarring to these structures may lead to difficulty with vision, hearing, eating, swallowing, speaking and toileting.
Complications arising from severe RDEB can also include anaemia, kidney disease, osteoporosis and squamous cell carcinoma (a form of skin cancer).
Figure 1. © 2021 Elsevier Inc. All rights reserved. Habif’s Clinical Dermatology. A Color Guide to Diagnosis and Therapy. SEVENTH EDITION James G.H. Dinulos, MD
How is dystrophic epidermolysis bullosa diagnosed?
Correct diagnosis of the EB type is important as each type has different levels of severity and outcomes:
- A detailed family history is taken to check for symptoms of EB
- The child and both parents are examined for signs of EB
- Genetic testing is usually offered to confirm the diagnosis and subtype of EB.
- A skin biopsy may be required to look for structural abnormalities in the skin, particularly if genetic testing is not available.
- Prenatal diagnosis can be performed when the genetic variant in the family is already known.
How is dystrophic epidermolysis bullosa treated?
Treatment options will vary depending on the individual and their needs.
There is currently no cure for DEB. The aim of treatment is to reduce the development of new blisters, promote skin healing and prevent infection.
Local treatments for the skin may include:
Protecting the skin
- Gentle handling to avoid damage by rubbing or friction.
- Use of soft clothing and nappies.
- Avoidance of adhesive (sticky) tapes and dressings.
Blister management
- New blisters should be pierced (with sterile needles) and drained as they arise as this helps to relieve pain and prevents blister enlargement and spreading.
Wound care
- Bathing should be performed every 1 to 2 days to keep the skin clean and soak off dressings that require changing (adding salt to the bath can help to make them less painful).
- Antiseptic solutions or dilute bleach baths are often recommended to reduce skin infection.
- Specialty non-stick dressings should be applied over any open wounds with secondary absorbent dressings and bandages to aid healing.
- In Australia, these dressings can be accessed through the government-subsidised National Epidermolysis Bullosa Dressing Scheme.2
DEB blisters and wounds are painful and regular pain relief is usually required.
DEB is often a multisystem disorder and a collaborative approach to management across several different medical and allied health specialities is usually required. The multidisciplinary team may include dermatologists, specialist nurses, paediatricians, plastic surgeons, dentists, gastroenterologists, cardiologists, dieticians, endocrinologists, pain specialists, psychologists, physiotherapists, occupational therapists, podiatrists, speech therapists and social workers.
There have also been some recent advancements in treatment for DEB. A new gene therapy was approved by the FDA for use in the USA in 2023.3 However, this treatment is not currently available in Australia.
What is the likely outcome of dystrophic epidermolysis bullosa?
As DEB is a genetic condition, the skin fragility and blistering tendency will persist lifelong. Scarring to the skin and body linings is progressive and therefore the severity of DEB may increase over time with progressive disability.
Individuals with more severe forms of DEB (usually RDEB) may have an increased risk of developing an aggressive form of skin cancer at a relatively young age.4
Long-term monitoring with a multidisciplinary care approach is recommended for individuals with severe forms of DEB.
- What is EB?, https://www.debra-international.org/dystrophic-eb
- The National Epidermolysis Bullosa (EB) Dressing Scheme, https://www.ebdressings.com.au/
- https://www.fda.gov/news-events/press-announcements/fda-approves-first-topical-gene-therapy-treatment-wounds-patients-dystrophic-epidermolysis-bullosa
- Robertson SJ, Orrin E, Lakhan MK, O’Sullivan G, Felton J, Robson A, Greenblatt DT, Bernardis C, McGrath JA, Martinez AE, Mellerio JE. Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study.Acta Derm Venereol. 2021 Aug 24;101(8):adv00523. doi: 10.2340/00015555-3875. PMID: 34230977; PMCID: PMC9413672.
| Dr Susan Robertson | March 2024 |
| Dr Susan Robertson | July 2015 |