In the most common EB type, EB simplex (EBS), nearly half or 50% of people were diagnosed by symptoms alone, without confirmatory testing (biopsy or genetic testing).
Recognizing dystrophic epidermolysis bullosa (DEB)
Get to know the signs and symptoms of DEB
The most common symptom of DEB is fragile skin
This fragile skin can lead to blisters, wounds, skin infections, and scarring. People living with DEB can also have problems with their fingernails and toenails, including poor growth or thick, yellow nails.
DEB can often be mistaken for other EB types or even other skin conditions. But recognizing DEB matters because of its risk for serious complications.
DEB symptoms are similar to those across other EB types and even other skin conditions
DEB can be either dominant (DDEB) or recessive (RDEB). Both DDEB and RDEB present with a range in severity from localized to intermediate to severe. Despite this, similar symptoms and risks exist across both DDEB and RDEB.
Localized DDEB
Intermediate DDEB
Intermediate RDEB
Severe RDEB
External signs and symptoms across DEB include:
Localized DDEB
Fragile skin on fingers and toes
Nails that thicken, discolor, or fall off
The fingernails and toenails have changes in shape, color, and texture
Shared Intermediate DDEB and RDEB
Blisters
A bubble on the skin filled with liquid caused by friction, burning, or other damage
Nails that thicken, discolor, or fall off
Milk spots (milia)
Small white bumps that appear on the skin
Skin infections
Open skin from wounds can become infected by germs (often bacteria or viruses)
Wounds
Open or broken skin
Scarring
A mark or marks left on the skin where the skin did not completely heal
Unusual skin coloring (pigmentation)
Changes in the coloring of the skin
Squamous cell cancer (SCC)
Severe RDEB
Widespread blistering and wounds
Mitten deformity
("mitten" hands)
Fingers and toes can fuse together due to scarring
Nail and hair loss
Squamous cell cancer (SCC)
DEB has symptoms you may not see
Beyond symptoms that are visible on the skin, DEB can impact multiple organs and body systems, including the eyes, mouth, gastrointestinal tract, and urinary tract.
All DEB wounds should be taken seriously. It’s possible for any DEB wound, large or small, to develop complications, such as infections or cancer.
Image sources: (Localized DDEB): Reprinted from Orphanet Journal of Rare Diseases, 5, Fine JD. https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-12. 2010;5(1):12:1-17. Copyright (2010). Licensed under the https://creativecommons.org/licenses/by-nd/2.0/. (Intermediate DDEB): Reprinted from JAAD International, 2, Rogers CL, Gibson M, Kern JS, et al. A comparison study of outcome measures for epidermolysis bullosa: Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) and the Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa (iscorEB). 2021;2:134-152. Copyright (2021), with permission from Elsevier. (Intermediate RDEB): Reprinted from Journal of Tissue Viability, 30, Wong T-W, Yang C-C, Hsu C-K, Liu C-H, Yu-Yun Lee J. Transplantation of autologous single hair units heals chronic wounds in autosomal recessive dystrophic epidermolysis bullosa: a proof-of-concept study. 2021;30(1):36-41. Copyright (2021), with permission from Elsevier. (Severe RDEB): Reprinted from Actas Dermo-Sifiliográficas (English Edition), 110, Imbernón-Moya A, Maseda-Pedrero R, Feito M, de Lucas R. Dilated cardiomyopathy in a child with recessive dystrophic epidermolysis bullosa. 2019;110(1):81-83. Copyright (2019), with permission from Elsevier.
Missed or delayed diagnosis of DEB can happen
For many, the path to an accurate DEB diagnosis can be long and challenging.
While DEB is often diagnosed at birth, it can also be missed. Similar symptoms on the skin may cause DEB to be mistaken for another form of EB or a different skin condition. Some people may not have symptoms until later in life, which can lead to a late diagnosis. Many people experience a delay between seeing symptoms and receiving an accurate diagnosis.
Shared external symptoms across EB types
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External symptoms |
DEB |
EB Simplex |
Junctional EB |
|---|---|---|---|
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Blisters |
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Wounds |
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Nails that thicken, discolor, or fall off |
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Scarring |
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Milk spots (milia) |
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Unusual skin coloring (pigmentation) |
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Skin infections |
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Blisters of the mouth |
DEB has symptoms similar to other skin conditions
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External symptoms |
DEB |
Other Genetic Blistering Conditions* |
Select Autoimmune Disorders† |
Select Infectious Diseases‡ |
|---|---|---|---|---|
|
Blistering of skin |
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Skin ulcer |
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Scarring |
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Reddening of the skin |
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Nail issues |
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Infections |
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Inflammation |
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Eye and mouth problems |
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Digestive tract problems |
* Other genetic blistering conditions include epidermolytic ichthyosis and eczema of the hand.
† Select autoimmune blistering conditions include linear IgA bullous dermatosis, bullous pemphigoid, and pemphigus vulgaris.
‡ Select infectious diseases include staphylococcal scalded skin syndrome.
People may have been diagnosed with EB, but many don’t know their specific EB type or if they have DEB.
All EB types share the symptom of fragile skin, but accurately recognizing DEB matters because of its higher risk for serious complications.
Although EB is genetic, only 56% of people with EB have had genetic testing to confirm which gene is affected.
Symptoms among EB types are similar—but DEB is more likely to have serious risks and complications in the future than other EB conditions. Because of this, knowing if your symptoms are DEB is important.
See why all DEB wounds should be taken seriously.
Accurate Diagnosis Matters
DEB can have serious risks and complications, and accurate diagnosis is the first step to address them
The Value of Accurately Knowing
An accurate DEB diagnosis can make a difference in how you live with DEB, from understanding the future to receiving accurate care
