What's epidermolysis bullosa?
Epidermolysis bullosa (EB) is not one disease but a family of rare inherited disorders in which the skin and other epithelial surfaces are mechanically fragile, so minor friction or trauma causes blistering and wounds. EB is divided into four main types by the level at which the skin splits: simplex (within the outer epidermis), junctional (in the lamina lucida), dystrophic (below the lamina densa), and Kindler. Severity ranges from localized blistering to life-limiting multisystem disease; chronic wounds in severe forms carry a long-term risk of skin cancer. This entry treats EB as an umbrella and confirms COL7A1, the gene behind the dystrophic form, as its principal molecular driver.
| Also indexed as | ORPHA:79361 |
|---|---|
| Features mapped | 13 |
| Treatments mapped | 6 |
| Published sources | 17 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Atrophic scars
In the dystrophic form, repeated blistering heals with scarring; over time this scarring can fuse fingers and limit movement, and it accompanies involvement beyond the skin.
Autosomal dominant inheritance
In dystrophic epidermolysis bullosa, the kind of change in the COL7A1 gene tends to track with how it is inherited: missense changes are linked with the dominant form, which can be passed on from one affected parent.
Abnormal blistering of the skin
The defining feature is skin fragility: blisters and open wounds form in response to minor friction or trauma that would not harm normal skin.
Nail dysplasia
Some forms of epidermolysis bullosa affect the nails, so deformed, thickened, or lost nails can be a sign of the condition alongside the skin fragility.
Nail dystrophy
Nail changes (thickened, deformed, or lost nails) are common, sometimes the most visible sign in milder, localized disease.
Milia
As blistered skin heals in dystrophic epidermolysis bullosa, tiny firm white bumps called milia often appear where the skin repaired itself. They are small cysts of trapped keratin and are a common, harmless sign that scarring has occurred.
Syndactyly
In dystrophic epidermolysis bullosa, repeated blistering and scarring can fuse the webspaces between the fingers and toes (pseudosyndactyly), which over time can draw the hand into a mitten-like shape.
Failure to thrive
In the generalized severe forms of epidermolysis bullosa, widespread, long-lasting wounds and involvement of the moist body linings can drain the body's resources, and malnutrition is one of the complications that can follow.
Autosomal recessive inheritance
In recessive dystrophic epidermolysis bullosa, the condition follows a recessive pattern: a change in a single gene drives skin blistering that ranges widely, from fragility limited to one area to complications affecting the whole body.
Pyloric stenosis
A few severe subtypes of epidermolysis bullosa are present from birth together with a blockage where the stomach empties into the intestine (pyloric atresia). A baby with this combination cannot pass feeds through and needs surgery early in life; it is a clue that points toward specific laminin- or integrin-related forms of the disease.
Skin blistering
In epidermolysis bullosa, the skin is mechanically fragile, and repeated, widespread blistering is a characteristic feature of the condition.
Squamous cell carcinoma
In severe epidermolysis bullosa, skin that blisters and heals over and over can develop chronic, non-healing wounds. Over years, these wounds can give rise to an aggressive skin cancer called squamous cell carcinoma, which ranks among the leading reasons for early death in the most severe subtypes. Regular skin checks of long-standing wounds matter for this reason.
Mucosal involvement
Epidermolysis bullosa can affect not only fragile skin but also the moist linings of the body (mucous membranes), and in generalized severe forms this mucosal involvement can contribute to systemic complications.
How it is diagnosed
epidermolysis bullosa
Diagnosed using: immunofluorescence mapping of skin biopsy.
“Clinically suspected diagnosis is confirmed by immunohistochemical examination of a skin biopsy at specialized centres in order to determine the level of cleavage and the deficient…”
epidermolysis bullosa
Diagnosed using: targeted next-generation sequencing gene panel.
“…the molecular pathology was completely elucidated in 90% of cases by the targeted NGS multi-gene…”
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
wound care and dressings
A central goal of care in epidermolysis bullosa is preventing and treating skin lesions using specific non-adherent dressings, alongside preventing, detecting and treating complications.
Used to help with: epidermolysis bullosa.
“Dressing changes and wound care are central to the management of EB.”
oleogel-S10 (birch triterpenes)
Oleogel-S10 (birch-bark triterpenes, brand name Filsuvez) is a topical gel applied to wounds. In a phase III trial it sped wound closure in dystrophic, junctional, and Kindler EB and was the first therapy to show accelerated wound healing in EB.
Used to help with: epidermolysis bullosa.
“Oleogel-S10 is the first therapy to demonstrate accelerated wound healing in EB.”
beremagene geperpavec
Beremagene geperpavec (Vyjuvek) is a topical gene therapy: a herpes-simplex viral vector delivers working copies of COL7A1 to wounds, restoring type VII collagen in dystrophic EB. Approved in the US in 2023, it was the first approved treatment for dystrophic EB and is applied to wounds and re-dosed.
Used to help with: epidermolysis bullosa.
“In May 2023, beremagene geperpavec received its first approval in the US for the treatment of wounds in patients ≥ 6 months of age with dystrophic epidermolysis bullosa with mutation(s) in the COL7A1 gene.”
iron supplementation and anemia management
Anemia is a common complication of severe epidermolysis bullosa, and managing it is part of care: dietary measures for everyone, iron taken by mouth for mild anemia, and iron given by infusion for moderate to severe anemia.
Used to help with: epidermolysis bullosa.
“Dietary measures should be offered as part of management of anemia in all EB patients, oral iron supplementation should be used for mild anemia; while iron infusion is reserved for moderate to severe…”
surgical pseudosyndactyly release
When scarring fuses the fingers in dystrophic epidermolysis bullosa, surgery can separate the joined webspaces to free the hand; because the scarring tends to return, this release is often repeated over time.
Used to help with: epidermolysis bullosa.
“…traditional and current treatment for DEB is largely supportive with wound care and iterative surgical pseudosyndactyly…”
multidisciplinary supportive care
Because there is no cure yet, care for epidermolysis bullosa is shared across a team and aimed at reducing new blisters, caring for wounds, easing symptoms, and watching for complications, including squamous cell carcinoma, a skin cancer that is the leading cause of death in the condition.
Used to help with: epidermolysis bullosa.
“…multidisciplinary care is targeted towards minimizing the risk of blister formation, wound care, symptom relief and specific complications, the most feared of which - and also the leading cause of mortality - is squamous cell…”
How to read the evidence labels
Where this comes from
This guide is built from 17 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.