"EB" most commonly refers to Epidermolysis Bullosa, a group of rare, genetic, and often fatal skin disorders. Individuals with EB have extremely fragile skin that blisters or tears from minor friction or trauma, often leading to the nickname "butterfly children".
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Here is a breakdown of the different interpretations of "EB":
1. Medical: Epidermolysis Bullosa (Skin Condition)
Types: The four main types are EB Simplex (EBS), Junctional EB (JEB), Dystrophic EB (DEB), and Kindler EB (KEB).
Symptoms: Skin fragility, blistering, and tearing. Severe cases can affect internal organs, causing significant pain and, in some cases, early mortality.
Causes: It is generally a hereditary condition caused by faulty genes, though EB acquisita (EBA) is an acquired autoimmune disease.
Treatment: There is no cure for the overall condition, but symptom relief, wound care, and pain management are used

Epidermolysis Bullosa (EB) is not currently curable, as it is a genetic condition. It is a lifelong condition where the skin is extremely fragile and blisters easily. Management focuses on symptom relief, such as wound care, pain management, and nutritional support to improve quality of life.
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Key Details on EB Management and Research
Treatment Approach: Care focuses on protecting the skin, pricking blisters, preventing infections, and managing nutritional needs.
New Therapies: In May 2023, the FDA approved Vyjuvek, a gene therapy for certain types of EB (DDEB and RDEB). Other treatments, such as Oleogel-S10, are also emerging.
Outlook: While there is no cure, some milder forms of EB may improve with age.
Ongoing Research: Clinical trials for gene, protein, and cell-based therapies are actively underway to find future cures.
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It is recommended to consult a specialized EB center for the most up-to-date treatment options and clinical trial participation.

What is Epidermolysis Bullosa?
Boy with epidermolysis bullosa.
Epidermolysis Bullosa (EB) is a group of rare genetic conditions that affect one in every 50,000 children. Epidermolysis Bullosa is hereditary, meaning that the genes that cause it may be are present in other family members.

People with EB have extremely fragile skin that blisters and tears from friction or trauma. It can seriously affect internal organs as well, requiring care from many different medical specialists. EB occurs in both genders and every racial and ethnic background. It is usually diagnosed at birth but can be diagnosed at any age.

Depending on the type of EB, as well as genetics, the symptoms, severity, long-term outcomes and quality of life differ from person to person. With milder forms of EB, skin may blister on the hands and feet only and may not lead to scarring or loss of function. However, in more severe forms, blistering may occur on the skin anywhere on the body and may include secondary injury to internal organs. This can result in disfigurement, disability and can even be life-threatening. Children with this condition are sometimes referred to as “butterfly children” because their skin is as fragile as a butterfly’s wings.

Epidermolysis Bullosa Types
There are four major types of EB. Although each subtype has a specific genetic cause, there is a wide range of severity, even within subtype. Each type differs from mild to severe in terms of appearance, genetic makeup, the area of the skin where there is blistering, and how much other parts of the body are involved.

Epidermolysis Bullosa Simplex
In mild cases, the blistering is mainly on the hands and feet with little or no scarring. Severe cases have more widespread blistering and other serious medical conditions such as blisters in the mouth or throat.

Junctional Epidermolysis Bullosa
The milder forms have limited blistering that often improves with age. Children may also have hair loss and abnormal toenails and fingernails. In older children and adults, there can be blisters in the lining of the mouth and digestive tract, making it hard to eat and digest food. Children are more likely to have growth and malnutrition issues. Severe cases may be fatal in infancy.

Dystrophic Epidermolysis Bullosa
This is a scarring type of EB. In mild cases, the blistering is primarily found on hands, feet, knees and elbows. Patients with more severe disease may experience a variety of serious medical conditions including blisters in the lining of the mouth and digestive tract, poor growth and nutrition, and anemia. With the severe type, there is a higher risk of developing skin cancer as patients get older.

Kindler Syndrome
In addition to blistering, these individuals have an increased sensitivity to sunlight.

Diagnosis
Diagnosis of EB can be confirmed by skin biopsies (sampling a small piece of skin) or with blood or saliva used for genetic testing. Genetic testing is the preferred diagnosis method.

Symptoms
Symptoms vary depending on EB type and level of severity. All people with EB have fragile skin and most blister easily.

Other problems can include:

Trouble eating and swallowing
Trouble gaining weight
Anemia
Problems breathing
Nail loss or abnormalities
Skin infections
Scarring of the skin
Difficulty walking due to scarring
Difficulty with hand function due to scarring
Skin cancer
Treatment
As of today, there is no cure for EB. There are, however, a lot of treatments that can improve the quality of life for people with EB.

Bandaging can help healing, prevent infections, and protect skin from injury.
A healthy diet consisting of extra calories and protein can help the skin heal.
Physical and occupational therapy services are used to help prevent weakness and loss of function. Adaptations are suggested to help maintain as normal a lifestyle as possible
Treatment of EB may require surgery. Examples can include:
Placement of a feeding tube into the stomach that can improve overall nutrition, which helps with wound healing, growth and development.
Dilation (widening / opening) of the esophagus if there is a narrowing causing swallowing difficulties.
Surgical repair to improve hand and foot function.
Placement of a breathing tube for severe respiratory problems.
Clinical trials of new treatments, including gene therapy, are now ongoing: contact our EB center for details if you would be interested in participating.
The FDA approved a treatment for DDEB and RDEB called Vyjuvek, on May 19, 2023. The Vyjuvek gel has to be applied by a healthcare professional once a week. Please contact your local PCP or dermatologist for more information. This medication is not a cure, but another therapy option for EB patients. For detailed information, please visit the FDA website for Vyjuvek.

Outlook
The outlook for children with EB depends on the type and severity of their EB. Most children are able to attend school with appropriate adaptations. Those who have a mild form of EB may notice improvement with age. More serious forms of EB may result in a shortened lifespan.

While there is no cure for EB, there are several research groups around the world that are working on new treatments for EB. We work with these groups nationally and internationally. Our goal is to provide the best quality of life possible for all of our patients.

Is a cure for epidermolysis bullosa on the horizon?

EB is currently incurable and is thought to affect around 5,000 people in the UK and 500,000 people worldwide​1​. Patients are commonly diagnosed as babies and young children, with symptoms often presenting from birth, but the condition can also emerge in adulthood.

There are four main types of EB: EB simplex, dystrophic EB, junctional EB and Kindler EB, with more than 30 subtypes
There are a range of symptoms, but most common across all types of EB is painful and itchy skin with blisters

Management of the condition includes daily skin and wound care, such as applying protective dressings and lancing blisters, along with preventing trauma to the skin — for example, avoiding the armpits when lifting babies.

But there may be hope on the horizon. Stem cell and gene therapy technologies are under development to provide correction of the genetic defect in EB at a DNA or mRNA level.

Epidermolysis bullosa (EB): symptoms, treatment, and care
What is EB?
EB is short for epidermolysis bullosa.

Inherited EB is a group of rare and incredibly painful genetic skin conditions that cause the skin to blister and tear at the slightest touch. With skin as fragile as a butterfly’s wings, EB is often referred to as ‘butterfly skin’.

It is thought to affect at least 5,000 people in the UK and 500,000 worldwide. These figures could be much higher though as it often goes undiagnosed. There are currently no cures for EB.
It’s a genetic condition; you are born with it although it may not become evident until later in life.
The type of EB you have does not change later in life and EB is not contagious or infectious.
Acquired EB is known as EB acquisita and is a rare, severe type of EB that is caused by autoimmune disease

What causes EB?
Every person has two copies of each gene, one passed on from each parent. A gene is section of DNA which controls part of a cell’s chemistry – particularly protein production. Each gene is made up of DNA, which contains the instructions to make essential proteins, including those which help bind the layers of skin together.

With people who have inherited EB, a faulty or mutated gene passed down through the family means the affected areas of the body are missing the essential proteins responsible for binding the skin together, which means the skin can break apart easily with friction.

A child, young person, or adult with EB might have inherited the faulty gene from a parent who also has EB, or they might have inherited the faulty gene from both parents who are just “carriers” but don’t have EB themselves. The change to the gene can also happen by chance when neither parent are carriers, but the gene mutates spontaneously in either the sperm or the egg before conception.

Also rarely, a severe form of EB can be acquired as the result of an autoimmune disease, where the body develops antibodies to attack its own tissue proteins.

EB may be inherited as either dominant, where only one copy of the gene is faulty, or recessive, where both copies of the gene are faulty. Parents have a 50% chance of passing on a dominant form of EB to their child, whereas the chance of passing on a recessive form of EB drops to 25%. Both parents may carry the gene without knowing and displaying any symptoms.

The faulty gene and missing protein can occur at different layers in the skin, which is what dictates the type of EB.

For more information about EB, please visit the link below.

NHS
Are there different types of EB?
There are thought to be over 30 subtypes of inherited EB, grouped into the four main types listed below. Each type of EB is identified according to which layer of skin is affected by the faulty gene and missing protein.

Find out more about the different types of EB below.

EB simplex (EBS)
Dystrophic EB (DEB)
Junctional EB (JEB)
Kindler EB (KEB)
How is EB diagnosed?
EB will usually be diagnosed in babies and young children when the symptoms can be obvious from birth.

However, some types of EB, such as EBS, may not be diagnosed until adulthood, and in some cases may not be diagnosed at all, as healthcare professionals do not always recognise the symptoms or can often misdiagnose it as another inflammatory skin condition such as psoriasis or atopic dermatitis (severe eczema).

If it is suspected your child has EB, they will be referred to a skin specialist (dermatologist) who can carry out tests (with your consent) to determine the type of EB and the support plan needed to help manage the symptoms. They may take a small sample of skin (biopsy) to send for testing or diagnose through a blood test.

Prenatal testing
How does EB affect the body?
Symptoms will vary depending on the type and severity of EB but the main challenge people with EB face daily is the pain and itching that occurs because of the blistering. In certain types of EB including EBS, blisters can be localised to the hands and feet or generalised across the body, however in severe types of EB it can affect any part of the body including mucosal linings, which are the moist, inner lining of some organs and body cavities such as the nose, mouth, lungs, and stomach. Blistering can also occur on the eyes and on internal organs including the throat and oesophagus.

Find out more about how EB affects the body below.

Common EB symptoms
touch or friction can cause shearing of the skin and blisters to form, blisters are not self-limiting so need to be lanced regularly to avoid them enlarging.
the healing of the blisters can cause pain, severe itching, and scarring.
in some types of EB, blistering may mainly occur on the hands and feet which causes problems with walking/mobility, and other daily activities.
in severe forms of EB, internal blisters such as inside the mouth can make it difficult to swallow and there can be narrowing of the oesophagus (throat) and airways which would require medical intervention.
widespread blistering and wounds can cause the skin to become infected if not managed well.
some types of EB can experience extensive scarring, a change in the colour of the skin over time, and a higher risk of developing skin cancers.
the build-up of scar tissue can cause fingers and toes to fuse together which can require medical intervention.
EB can affect other organs within the body in addition to the skin including the bones and intestines, it can also lead to other medical complications, including constipation, particularly for children due to blistering around the bottom, and because it is a side effect of some types of painkillers. EB can also lead to anaemia. The effects of EB are multisystemic and in severe types of EB bone density can be severely impacted.

How is EB treated?
There are no cures for EB, but there are treatments available that aim to improve quality of life by managing the symptoms as best as possible.

Skin and wound care
For most people living with EB, or caring for someone with EB, wound care is a big part of daily life. Knowing how to manage blisters and different wound types, treat pain and itch, prevent, and treat infection and when to seek medical advice are all crucial in EB wound care.

General skincare advice
An important part of any treatment plan for people living with EB is preventing trauma or friction to the skin to reduce the frequency of blistering and therefore reduce pain, itch, and scarring. Everyone’s experience with EB is slightly different and advice will vary depending on the severity and type of EB. It is therefore recommended that you seek support from an EB healthcare specialist for your individual circumstances but as a guide it is recommended to:

minimise walking long distances and try to save your skin/feet for essential journeys where possible.
try and avoid bumps and scratches and try to avoid rubbing the skin – parents may need to adapt how they lift babies and children.
try to find comfortable clothes that don’t rub against the skin and where you can, avoid bulky seams, where possible, wear natural smooth fibres such as silk, bamboo and cotton as this can help reduce irritation.
keep the skin as cool as possible.
choose comfortable footwear that doesn’t have hard seams inside. Find out more in the footwear guide.
use any aids and adaptations suggested by your healthcare team which could be simple solutions such as insoles or a perching stool, or mobility aids such as a wheelchair or grab rails in the bathroom. Always ask your EB specialist as some equipment or mobility aids may not be appropriate for your EB.
ask others to be considerate of your needs.
People living with EB often describe the pain from their skin damage as being like third degree burns, and in some cases, there may be deep loss of skin over large areas. Specific care is required to limit pain, itch and other symptoms associated with blistering.

Butterfly skin explained: understanding epidermolysis bullosa

Epidermolysis bullosa (EB), sometimes called butterfly skin, is a group of rare skin diseases with a common symptom: fragile skin that tears and blisters easily. Children with this disease are sometimes called “butterfly children” because their skin is as delicate and fragile as a butterfly’s wing. Friction from clothing, touch or knocks to the skin can all cause blisters to form, and they can occur anywhere on the body. In mild disease the blisters occur on hands, knees and elbows, while in severe disease the blisters are more widespread and can also affect the mouth and gastrointestinal tract. In some cases, blisters can leave scars when they heal. This rare, genetic disease is usually seen from birth or in infancy and affects an estimated 1 in 50,000 people [1]; however, only 250 cases of the rare subtype Kindler syndrome have been reported worldwide [2].

In this article, you can find a detailed description of the different types of EB, including symptoms and causes, as well as information about treatment and disease management.

Contents

What are the types of epidermolysis bullosa?
What are the symptoms of epidermolysis bullosa?
Epidermolysis bullosa simplex symptoms
Junctional epidermolysis bullosa symptoms
Dystrophic epidermolysis bullosa symptoms
Kindler syndrome symptoms
What causes epidermolysis bullosa?
How is epidermolysis bullosa diagnosed?
How is epidermolysis bullosa treated and managed?
Conclusion
References
What are the types of epidermolysis bullosa?
There are 4 main types of inherited EB [2, 3] categorized based on which layer of the skin is affected by blisters:

Epidermolysis bullosa simplex: blisters occur in the epidermis (the top layer of skin)
Junctional epidermolysis bullosa: blisters occur in the basement membrane, which is found between the epidermis and the lower layer of skin called the dermis.
Dystrophic epidermolysis bullosa: blisters occur in the dermis.
Kindler syndrome: blisters occur in all layers of the skin, including the basement membrane
Another type of EB, epidermolysis bullosa aquisita is an autoimmune disorder that is acquired not inherited [3] and typically occurs in adulthood [4].

What are the symptoms of epidermolysis bullosa?
Fragile skin that tears easily, causing blisters and sores to develop is the main symptom of all types of EB. The location and severity of the sores varies with type and between people: in general, blisters can be localized or generalized. They can develop anywhere on the body or even inside the body, including in the mouth, gastrointestinal tract, upper airway, bladder, genitals, and eyes [1, 3].

Epidermolysis bullosa simplex symptoms
Epidermolysis bullosa simplex (EBS) is the most common form of EB. It is thought that are four main types of epidermolysis bullosa simplex, which differ with regard to severity of symptoms and localization of blisters [5]. Symptoms can range in severity from mild to severe. Blisters, that do not usually scar, are localized in mild forms to the hands and feet, or found all over the body in more severe forms. Other symptoms are thickened skin on palms and soles, thickened fingernails or toenails, and oral blisters [1, 3, 6].

Junctional epidermolysis bullosa symptoms
Junctional EB (JEB)is usually a severe form of EB. Blisters affect the mouth and upper airway, as well as the gastrointestinal tract, urinary system, and genitals. In this form of EB, blisters on the face, body and legs can become infected. Other symptoms of JEB include thickened fingernails or toenails, hair loss due to blisters on the scalp, dehydration due to fluid loss from open sores, malnutrition and anemia due to blisters in the mouth and gastrointestinal tract that affect calorie and nutrient uptake, slow growth, and weak tooth enamel [1, 3].

JEB can be split into 2 subtypes: Herlitz JEB and all other forms of JEB (known as JEB generalized intermediate, including non-Herlitz JEB and JEB with pyloric atresia). Herlitz JEB is often fatal in infants with death caused by factors such as sepsis, malnutrition and dehydration [6, 7].

Dystrophic epidermolysis bullosa symptoms
There are two subtypes of dystrophic EB (DEB) with slightly different symptoms. The subtype is determined by the mode of inheritance.

The recessive subtype (recessive DEB, RDEB) is the most common form of DEB. There are also several types of RDEB with recessive dystrophic epidermolysis bullosa severe generalized the most severe form [8]. Symptoms include blisters on feet, knees and elbows in mild cases that are more widespread in severe cases and can also occur in the mouth and gastrointestinal tract, nail loss, scarring, milia (also known as milk spots, which are small white bumps on skin), itching, anemia, malnutrition, and slow growth. In more severe cases there may be tooth malformation or loss, eye damage and an increased risk of developing skin cancer as young adults [3, 6, 8].

Dominant DEB (DDEB) is usually milder than RDEB with blisters typically seen only on the hands, feet, elbows, and knees. Other symptoms include oral blisters, nail changes or nail loss, milia, and scarring [3, 6].

Sometimes, missing nails are the only sign of mild disease [8].

Kindler syndrome symptoms
In Kindler syndrome, blisters usually form on the hands and feet, although other areas, including mouth and eyes, can be affected in severe cases. Other symptoms of Kindler syndrome include thin, papery, patchy or discolored skin, changes in skin coloring, visible blood vessels under the skin, scarring, milia, and sun sensitivity with an increased risk of developing skin cancer. Sometimes the skin on the hands and feet can thicken and harden [2, 3].

In all forms of EB, the blisters can also have consequences. In some cases, they leave scars, and scaring can also lead to skin fusing especially between fingers and toes, causing deformities and impairing movement. Other consequences include difficulty swallowing or blocked airways, affecting the ability to eat, drink or breath, as well as impaired vision from blisters in the eyes. Infected blisters are another complication [1, 4].

What causes epidermolysis bullosa?
EB is an inherited disease. It is caused by a mutation (variant) in a gene that is passed from parents to their children (a child inherits one copy of each gene from each parent) and can be inherited in a dominant or a recessive manner. In the dominant disease form, the child inherits one unaffected gene copy and one with the EB causing mutation, while in the recessive form, both parents carry a recessive mutation but do not have the disease and the child inherits one affected gene from each parent. If the child inherits one recessive gene and one unaffected gene, they will be a carrier of EB [3].

Mutations in at least 18 different genes are known to cause EB. Typically, these are genes involved in the structure of collagen in the epidermis, dermis, or basement membrane [1, 3, 6].

EBS is usually dominantly inherited, caused by mutations in the KRT5 or KRT1 genes which provide instructions for making keratin 5 and 14, and PLEC, which provides instructions for making a protein called plectin that is important in attachment of the epidermis [, 6].

JEB is recessively inherited and involves genes such as LAMA3, LAMB3, LAMC2, which provide instructions for making laminin that is important for skin strength and attachment of the layers, COL17A1, which provides instructions for the assembly of type XVII collagen, and ITGB4,which provides the instructions for making integrin and is important for cell adhesion [7].

DEB is caused by mutations in COL17A1 leading to defects in type VII collagen [6, 8].

Kindler syndrome follows an autosomal recessive inheritance pattern. It is caused by variants in the FERMT1 gene which contains the instructions for making the protein kindlin-1 in the epithelial cells that are a major component of the epidermis [2].

As EB is a genetic disease, couples with a family history of the disease should consider genetic counseling to assess their risk for passing the disease to their children before having children.

How is epidermolysis bullosa diagnosed?
EB is usually diagnosed by skin biopsy. Genetic testing can detect the mutations known to associated with EB. It is also possible to detect some forms of EB via prenatal testing. VERAgene can detect the mutations in LAMC2 that cause JEB, Herlitz type using a maternal blood sample from 10 weeks of pregnancy.

How is epidermolysis bullosa treated and managed?
Although the outlook is largely dependent on the severity of the disease, treatment and management plans can improve quality of life by addressing symptoms and pain.

Treatment is not curative, but can treat symptoms, and reduce both pain and the risk of complications. It can include pain medication, draining blisters, topical treatments for blisters, antibiotics for infections, dietary changes in cases of blisters in the mouth and gastrointestinal tract (warm, soft or liquid foods), and vitamin and mineral supplements if necessary. Severe cases may require surgery to widen the esophagus or insert a feeding tube [1, 6].

Disease management includes taking steps to reduce friction on the skin, e.g., by wearing soft, lose clothing and applying non-adhesive bandages to protect the skin, keeping skin cool, wearing sun screen, and skin cancer monitoring [1, 6].

In 2023, the first gene therapy gel (Vyjuvek) for the treatment of wounds in patients with DEB who have mutations in the COL7A1 gene was approved for use by the U.S. Food and Drug Administration (FDA) [6]. Vyjuvek uses a modified herpes simplex virus to deliver two normal copies of the COL7A1 gene directly to skin cells, allowing them to produce type 7 collagen (CCOL7) and improving the skin’s ability to repair wounds and reduce blistering [9].

Conclusion
EB, or butterfly skin, is a distressing disease for patients and their care-givers, although treatment and management plans can improve quality of life by addressing symptoms and pain. Being a genetic disease, couples with a family history of EB should consider genetic counseling to assess their risk for passing the disease on before having children, and genetic testing, including prenatal genetic testing, can detect the mutations known to associated with EB.

Furthermore, parents of children with EB may feel guilty at having to hurt their child to change bandages, or overwhelmed by the nature of the disease and the child’s perceived limitations. It is important to communicate with healthcare providers and reach out to self-help groups and other hard-working patient advocacy groups for support.

Butterfly skin disease, or Epidermolysis bullosa (EB), is a group of rare genetic disorders characterized by extremely fragile skin that blisters from minor friction, touch, or heat. Symptoms include widespread, painful blisters, open sores, scarring, and, in severe cases, internal blistering, malnutrition, and a high risk of infections or skin cancer.
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Medicover Genetics
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Primary Skin Symptoms
Blisters: Appear easily on hands, feet, knees, and elbows, often present at birth or infancy.
Fragile Skin: Skin tears, shears, or blisters with minimal contact.
Slow-Healing Wounds: Open sores that may not heal properly and can lead to infections.
Scarring: Chronic blisters cause atrophic or hypertrophic scars.
Milia: Tiny, white, pimple-like bumps.
Nail/Hair Changes: Thickened, deformed, or lost fingernails and toenails (onycholysis) and scarring hair loss.
Skin Thickening: Thickening of the skin on palms and soles.
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Mayo Clinic
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Internal and Complication-Related Symptoms
Mucous Membrane Blisters: Blisters inside the mouth, throat, esophagus, and eyes, making eating and swallowing difficult.
Physical Deformities: Fusing of fingers and toes (syndactyly) and joint contractures.
Nutritional Issues: Anemia, malnutrition, and failure to thrive in infants due to swallowing difficulties and nutritional loss.
Severe Pain and Infection: Chronic pain and high susceptibility to infections, sometimes requiring specialized care.
Cancer Risk: High risk of developing squamous cell carcinoma in chronic wounds.