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Epidermolysis Bullosa (EB) : Causes, Types, Symptoms, Diagnosis and Treatment

 What is Epidermolysis Bullosa (EB)?

Epidermolysis bullosa is a genetic skin disorder that results in blister formation from mechanical trauma. There are four main types of EB, each with a range of severity. Some people may be mildly affected, while others are severely affected. Swimming can be a minor inconvenience, but it can become completely disabling and even fatal if not done correctly.

Blisters form from the friction of the skin. They may form anywhere on the surface of the skin within the oral cavity and in more severe cases, may also involve the external surface of the eye and other body parts. In some cases, blistering may lead to disfigurement. Scarring and physical deformities can occur.

There is currently no cure for EB. People with EB need to receive daily wound care and pain management as needed.

Epidermolysis bullosa (EB) may be a cluster of rare diseases that cause the skin to blister simply.

Epidermolysis bullosa blisters on baby’s knee

Epidermolysis bullosa causes blisters that quickly burst and leave slow-healing wounds just like the one on this baby’s knee.

The skin blisters as a result of it’s thus fragile. The delicate skin is typically noticeable at birth. A hug, fond rub on the rear, or diaper amendment will injure the skin, resulting in blisters and open wounds.

Some youngsters develop blisters within the dampish tissue that lines the mouth, throat, stomach, intestines, rectum, and alternative areas of the body. In these areas, the friction caused by swallowing food or having a defecation will result in painful blisters.

The effects that EB has on a child’s life varies significantly. Some youngsters have a gentle unwellness that needs taking precautions to stop injuries. At the opposite finish of the spectrum, EB will cause womb-to-tomb incapacity that wants in progress medical aid.

Some forms of EB are less doubtless to cause womb-to-tomb incapacity, however any form of EB will cause severe symptoms, because the following descriptions of the various forms of EB indicate.

What is Epidermolysis Bullosa (EB)

Explanation of medical terms and concepts (EB)

Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) may be a cluster of rare diseases that cause fragile, blistering skin. The blisters might seem in response to minor injury, even from heat, rubbing, scratching or tape. In severe cases, the blisters might occur within the body, like the liner of the mouth or the abdomen.

Most sorts of epidermolysis bullosa are genetic. The condition typically shows up in infancy or babyhood. Some folks do not develop signs and symptoms till adolescence or early adulthood.

Epidermolysis bullosa has no cure, though gentle forms might improve with age. Treatment focuses on caring for blisters and preventing new ones.

Epidermolysis bullosa (EB) is an inherited condition that causes the skin to be extremely fragile resulting in blistering of the hands and feet It also affects the internal organs such as intestines lungs and mouth The severity of this condition varies from patient to patient with mild cases having blisters that heal over a period of time while severe cases result in death within a few months after birth

Epidermolysis bullosa (EB) is a group of rare genetic skin disorders in which there is a tendency to blister severely from minor friction or trauma The blisters form in the upper layers of the skin and are most common on the hands feet and face In these areas the underlying tissues are not fully formed during development so their fragility makes them more susceptible to blistering

Symptoms Epidermolysis Bullosa (EB)

Epidermolysis bullosa signs and symptoms vary depending on type. They include:

  • Fragile skin that blisters easily, especially on the hands and feet

  • Nails that are thick or don't form

  • Blisters inside the mouth and throat

  • Thickened skin on the palms and soles of the feet

  • Scalp blistering, scarring and hair loss (scarring alopecia)

  • Thin-appearing skin (atrophic scarring)

  • Tiny white skin bumps or pimples (milia)

  • Dental problems, such as tooth decay from poorly formed enamel

  • Difficulty swallowing (dysphagia)

  • Itchy, painful skin

Epidermolysis bullosa blisters may not appear until a toddler first begins to walk or until an older child begins new physical activities that trigger more intense friction on the feet.

When to see a doctor

Contact your doctor if you or your kid develops blisters, notably if you do not recognize the rationale for them. For infants, severe blistering is often critical.

Seek immediate medical care if you or your child:

  • Has problems swallowing

  • Has problems breathing

  • Shows signs of infection, such as warm, red, painful or swollen skin, pus, or a foul odor from a sore, and fever or chills

Causes Epidermolysis Bullosa (EB)

Epidermolysis bullosa is sometimes hereditary. The unwellness cistron could also be passed on from one parent WHO has the unwellness (autosomal dominant inheritance). Or it's going to be passed on from each oldster (autosomal recessive inheritance) or arise as a brand new mutation within the affected person who may be passed on.

The skin is created from Associate in Nursing outer layer (epidermis) Associate in Nursing an underlying layer (dermis). The realm wherever the layers meet is termed the basement membrane. the varied forms of epidermolysis bullosa area unit mostly outlined by that layer the blisters type in.

The main forms of epidermolysis bullosa are:

  • Epidermolysis bullosa simplex. This is the foremost common kind. It develops within the outer layer of skin and in the main affects the palms and also the feet. The blisters sometimes heal while not scarring. 

  • Junctional epidermolysis bullosa. This type may be severe, with blisters beginning in infancy. A baby with this condition may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords.

  • Dystrophic epidermolysis bullosa. This type is said to be a flaw within the factor that helps manufacture a kind of albuminoid that has strength to the pig-skin-like corium layer of the skin. If this substance is missing or does not perform, the layers of the skin will not be part of properly. 

Risk factors Epidermolysis Bullosa (EB)

Having a family history of epidermolysis bullosa is the major risk factor for developing the disorder.


Complications of epidermolysis bullosa may include:

  • Infection. Blistering skin is vulnerable to bacterial infection.

  • Sepsis. Sepsis happens once bacterium from a colossal infection enters the blood and unfolds throughout the body. infection may be a quickly progressing, critical condition that may cause shock and organ failure. 

  • Fusion of fingers and changes in the joints. Severe forms of epidermolysis bullosa can cause fusion of fingers or toes and abnormal bending of joints (contractures). This can affect the function of the fingers, knees and elbows.

  • Problems with nutrition. Blisters within the mouth will build consumption tough and cause deficiency disease and anemia (such as low iron levels within the blood). issues with nutrition may cause delayed wound healing and, in youngsters, slowed growth. 

  • Constipation. Difficulty passing stool may be due to painful blisters in the anal area. It can also be caused by not ingesting enough liquids or high-fiber foods, such as fruits and vegetables.

  • Dental problems. Tooth decay and problems with tissues inside the mouth are common with some types of epidermolysis bullosa.

  • Skin cancer. Adolescents and adults with certain types of epidermolysis bullosa are at high risk of developing a type of skin cancer known as squamous cell carcinoma.

  • Death. Infants with a severe type of junctional epidermolysis bullosa area unit at high risk of infections and loss of body fluids from widespread blistering. Their survival additionally is also vulnerable owing to blistering, which can hamper their ability to eat and breathe. several of those infants die in childhood. 


It's not possible to prevent epidermolysis bullosa. But you can take steps to help prevent blisters and infection.

  • Handle your child gently. Your babe or kid wants caressing, however be terribly mild. to choose your kid, place him or her on soft material, like cotton, and support underneath the buttocks and behind the neck. do not elevate your kid from underneath his or her arms. 

  • Take special care with the diaper area. If your child wears diapers, remove the elastic bands and avoid cleansing wipes. Line the diaper with a non-stick dressing or spread it with a thick layer of zinc oxide paste.

  • Keep the home environment cool. Set your thermostat so that your home remains cool and the temperature remains steady.

  • Keep the skin moist. Gently apply lubricants, such as petroleum jelly.

  • Dress your child in soft clothes. Use soft consumer goods that are straightforward to urge on and off. It's going to make it easier to get rid of labels and place consumer goods on seam-side dead sets to minimize scratching. strive stitching foam pads into the liner of consumer goods by elbows, knees and alternative pressure points. Use soft special shoes, if doable. 

  • Prevent scratching. Trim your child's fingernails regularly. Consider putting mittens on him or her at bedtime to help prevent scratching and infection.

  • Encourage your child to be active. As your kid grows, encourage him or her to be concerned in activities that do not cause skin injury. Swimming may be a smart possibility. For kids with gentle kinds of epidermolysis bullosa, they will defend their skin by carrying pants and sleeves for outdoor activities. 

  • Cover hard surfaces. For example, place sheepskin on car seats and line the bathing tub with a thick towel.

Diagnosis Epidermolysis Bullosa (EB)

EB is typically diagnosed in babies and young youngsters, because the symptoms will be obvious from birth. however some milder forms of EB might not be diagnosed till adulthood.

If it's suspected your kid has the condition, they're going to be cited by a skin specialist (dermatologist).

The specialist can perform tests to see the sort of EB and facilitate return up with a treatment arrangement. They will take atiny low sample of skin (biopsy) to test.

A doctor could suspect epidermolysis bullosa from the looks of the affected skin. He or she's going to doubtless have your kid endure laboratory tests to substantiate the designation. they will include:

  • Skin biopsy for immunofluorescence mapping. With this method, an attiny low sample of affected skin is removed and examined with a magnifier and mirrored light-weight to spot the layer or layers of skin concerned. This check conjointly identifies whether or not the proteins required for skin growth square measure functioning. 

  • Genetic testing. Genetic testing usually wants to make sure the identification as a result of most varieties of epidermolysis bullosa square measure genetic. a tiny sample of blood is taken and sent to a science lab for analysis. 

  • Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling.

Treatment Epidermolysis Bullosa (EB)

There's presently no cure for EB, therefore treatment aims to alleviate symptoms and stop complications developing, like infection.

A team of medical specialists can assist you decide what treatment is best for your kid and provide recommendations concerning living with the condition.

If way changes and residential care do not manage the signs and symptoms of epidermolysis bullosa, treatments might embody medications, surgery and rehabilitation. The condition usually progresses despite treatment, generally inflicting serious complications and death.


Medications will facilitate management of pain and itch and treat complications like infection within the blood (sepsis). The doctor might impose oral antibiotics if the injuries show signs of widespread infection (fever, weakness, swollen bodily fluid glands).


Surgical treatment may be needed. Options sometimes used for this condition include:

  • Widening the esophagus. Blistering and scarring of the gullet might result in passageway narrowing, creating ingestion though. Surgical dilation of the gullet will relieve this and create it easier for food to travel from the mouth to the abdomen. Risks embrace passageway perforation. 

  • Placing a feeding tube. To improve nutrition and help with weight gain, a feeding tube (gastrostomy tube) may be implanted to deliver food directly to the stomach.

  • Grafting skin. If scarring has affected the function of the hand, the doctor may suggest a skin graft.

  • Restoring mobility. Repeated blistering and scarring will cause fusing of the fingers or toes or abnormal bends within the joints (contractures). The doctor might advocate surgery to correct these conditions, significantly if they interfere with traditional motion. 

Rehabilitation therapy

Working with a rehabilitation specialist (physical therapist, occupational therapist) can help ease the limitations on motion caused by scarring and contractures.

Potential future treatments

Researchers are studying better ways to treat and relieve the symptoms of epidermolysis bullosa, including:

  • Gene therapy

  • Bone marrow (stem cell) transplantation

  • Protein replacement therapies

  • Cell-based therapies

Lifestyle and home remedies

You can take steps to prevent blisters and stop new ones from forming. find out how to worry for wounds and supply sensible nutrition, that area unit essential to individuals with epidermolysis bullosa.

Caring for blisters

Your doctor will show ways that|you the way} to worry for blisters properly and advise you on ways to forestall them. seek advice from your doctor regarding safe ways in which to interrupt and drain blisters before they get large. Your doctor also can advocate a product to assist keep the affected areas wet, that helps promote healing and stop infection.

In general, take these steps:

  • Wash your hands. Wash your hands before touching your child's blisters or changing dressings.

  • Control pain. About half-hour before a dressing modification or different painful procedure, older youngsters and adults could take a prescription-strength pain medication. For those who do not reply to pain relievers, different choices embrace anti-seizure medication like gabapentin and pregabalin. 

  • Cleanse skin daily. To cleanse a wound, soak it for 5 to ten minutes in a very delicate solution of salt and water. alternative choices are delicate solutions of diluted vinegar or bleach. Soaking loosens stuck bandages and helps scale back the pain of fixing bandages. Rinse with lukewarm water. 

  • Puncture new blisters. This prevents them from spreading. Use a sterile needle to puncture each new blister in two spots. But leave the roof of the blister intact to allow for drainage while protecting the underlying skin.

  • Apply treated dressings. Spread petroleum or different moisturizing substances on a slippy bandage (Mepilex, Telfa, petroleum jelly gauze). Then gently place the bandage on the wound. Secure the pad with rolled gauze if required. 

  • Wrap blistered hands and feet daily. With some severe forms of this condition, daily wraps help prevent contractures and fusion of the fingers and toes. Special wraps and gauze dressings are useful for this treatment.

  • Watch for signs of infection. If you notice redness, heat, pus or a line leading from the blister, speak along with your doctor concerning prescription antibiotics.
    Keep cool. Blistering is commonly worsened by heat and heat conditions. 

Providing good nutrition

A varied, wholesome diet promotes growth and development in kids and helps wounds heal. If blisters within the mouth or throat build it troublesome for your kid to eat, here square measure some suggestions:

  • For babies, try bottle nipples designed for premature infants, a syringe or a rubber-tipped medicine dropper.

  • For older children, serve nutritious, soft foods that are easy to swallow, such as vegetable soup and fruit smoothies. Puree solid foods with broth or milk.

  • Serve food and beverages lukewarm, at room temperature or cold.

  • Talk with a dietitian or doctor about using supplements to minimize nutrient and vitamin deficiencies.

Coping and support

Treating and preventing blisters and complications of epidermolysis bullosa are often nerve-racking for you, your kid and members of the family. you'll notice it useful to share issues and knowledge with families in similar circumstances. raise your health care suppliers regarding epidermolysis bullosa support teams in your space. If connecting a support cluster is not for you, raise counselors, priesthood or social staff World Health Organization work with families addressing epidermolysis bullosa.

Preparing for your appointment

You may be referred to a doctor who specializes in the diagnosis and treatment of skin conditions (dermatologist).

Specialized epidermolysis bullosa centers

Centers that focus on the designation, analysis and treatment of individuals with epidermolysis bullosa might belong to a network referred to as EB Clinet. Such centers are unit staffed with doctors, nurses, social staff and rehabilitation specialists UN agencies offer specialized look after folks with this condition.

Visiting such a middle often will improve quality of life and cut back hospitalizations from complications for folks with epidermolysis bullosa. raise your doctor if a specialized epidermolysis bullosa center is out there to you.

No matter what form of doctor you see 1st, here's some info to assist you indurate the appointment.

What you can do

  • List your child's signs and symptoms and how long he or she has had them.

  • Note any new sources of friction around the blistering areas, if any. For example, tell your doctor if your toddler has recently started walking or your older child has begun physical activities that put new pressure on the affected areas.

  • List key medical information, including different medical issues your kid has received a designation for. additionally list the names of all over-the-counter and prescription medications he or she is taking, moreover as any vitamins and supplements. 

  • Ask a trusted family member or friend to join you for your child's appointment. If your doctor tells you your kid has epidermolysis bullosa, you will have issues specializing in the rest, the doctor says. Take somebody on a United Nations agency who offers emotional support and assists you recall all the data. 

  • List the questions to ask your doctor.

Questions to ask your doctor

  • What's the most likely cause of my child's signs and symptoms?

  • What are other possible causes for these signs and symptoms?

  • What kinds of tests does my child need?

  • What treatments are available, and what types of side effects might they cause?

  • What can be done to relieve my child's pain or discomfort?

  • How do I take care of my child's needs, such as feeding, bathing and clothing him or her?

  • What are the possible complications of this condition?

  • What signs or symptoms related to this condition should prompt me to call you?

  • What signs or symptoms should prompt me to call 911 or my local emergency number?

  • What restrictions does my child need to follow?

  • Do you think my child's symptoms will improve with age?

  • If I plan to have more children, are they at increased risk of this condition?

  • How can I find other people who are coping with epidermolysis bullosa?

  • Where can I find additional information and resources?

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to talk about in-depth. Your doctor may ask:

  • When did you first notice the blistering?

  • What parts of the body have been affected?

  • Does anything in particular seem to trigger blistering? For example, is it made worse by heat?

  • Has your child developed sores where bandages and adhesive tape have been applied?

  • Have you noticed other signs or symptoms in addition to blistering? For example, does your child's voice sound hoarse?

  • Does eating or swallowing seem to cause your child pain?

  • Has anyone in your family had a condition marked by significant blistering?

  • Has your child been diagnosed with any other medical conditions?

What you can do in the meantime

In the time leading up to your appointment, you can minimize the risk of your child developing new blisters by:

  • Lifting or touching him or her very gently

  • Keeping your home consistently cool

  • Keeping your child's skin moist with lubricants, such as petroleum jelly

  • Dressing your child only in soft materials

  • Keeping your child's fingernails short

Call your doctor immediately if you see signs of possible infection around a blister.

General summary

There is no cure for epidermolysis bullosa but there are treatments that can make life easier These include pain medications and protective bandaging to help the skin There are also thermal therapies phototherapy and laser therapy that may provide some improvement in the appearance of your child's skin

Is epidermolysis bullosa life threatening?

Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that cause the skin to be extremely fragile In some forms of EB the layers of the epidermis (the top layer of the skin) are not properly attached to each other The slightest touch or friction can cause this outer layer to peel off leaving raw and painful skin underneath that takes weeks to heal fully

What is the life expectancy of someone with epidermolysis bullosa?

The life expectancy of people with EB is fifty-fifty Some children live into their twenties and others don't make it past elementary school The factors that determine a child's survival are the severity of his or her condition and the types of treatments he or she receives

Is epidermolysis bullosa painful?

Epidermolysis bullosa also called EB or “snowflake” disease is a rare and painful genetic skin disorder It's characterized by fragile and blistered skin that peels all the time There are several severities of EB and all forms of the condition can cause permanent scarring

Epidermolysis Bullosa is rare and devastating The word epidermolysis means separation of the skin while bullosa describes the blistering that occurs within the upper layers of the skin These blisters happen because the proteins in our skin are not doing their job properly

Can you live a normal life with epidermolysis bullosa?

Epidermolysis bullosa (EB) is a rare genetic condition that literally means “without skin” People with EB endure blistering and open wounds often times requiring skin grafts and surgeries to improve the quality of their lives Other skin conditions can be more mild; for example chronic sun exposure may cause freckles or even moles without causing any pain or discomfort in healthy individuals

Is epidermolysis bullosa a disability?

Epidermolysis bullosa (EB) is a rare inherited and lifelong disabling skin condition It causes the top layer of your skin to be very fragile so it can blister or tear easily with rubbing or friction You may have EB if your skin blisters when you ?: wear tight clothes move around too much for example when you dance or play sport are in hot weather that makes you sweat cough hard or sneeze (even if there’s no cold involved) – some people say this hurts more than getting burns from touching something hot It can also cause

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 Epidermolysis Bullosa (EB) : Causes, Types, Symptoms, Diagnosis and Treatment

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