Epidermolysis bullosa

Definition:
Epidermolysis bullosa (ep-ih-dur-MOL-ih-sis buhl-LO-sah) is a group of skin conditions whose hallmark is blistering in response to minor injury, heat, or friction from rubbing or scratching. At least 27 different types of EB have been described, but the three main forms are EB simplex, junctional EB and dystrophic EB. Most are inherited.

Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. It is caused by a mutation in the keratin or collagen gene.

As a result, the skin is extremely fragile. Minor mechanical friction or trauma will separate the layers of the skin and form blisters. People with this condition have an increased risk of cancers of the skin, and many will eventually be diagnosed with it as a complication of the chronic damage done to the skin.

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The skin has two layers; the outer layer is called the epidermis and the inner layer the dermis. In normal individuals, there are protein anchors, made of collagen, between the two layers that prevent them from moving independently from one another (shearing). In people born with EB, the two skin layers lack the protein anchors that hold them together, and any action that creates friction between the layers (like rubbing or pressure) will create blisters and painful sores. Sufferers of EB have compared the sores with third-degree burns.

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The condition was brought to public attention in the UK through the Channel 4 documentary The Boy Whose Skin Fell Off, chronicling the life and death of Jonny Kennedy, an English man with EB.

“Butterfly Children” is a term often used to describe younger patients because the skin is said to be as fragile as a butterfly’s wings.

Children with the condition have also been described as “Cotton Wool Babies,”  and in South America, “Crystal Skin Children” is the term used.

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The inheritance pattern of EB depends on the type. Autosomal dominant variants tend to be milder. Autosomal recessive forms tend to be more severe or even fatal. In these cases there’s usually no family history of the condition.

Around one in 17,000 babies is born with EB. It’s estimated there are around 5,000 people in the UK with this condition. Around one in 227 people carries a gene for EB, although many of these aren’t affected.

EB affects males and females of all races around the world.

Symptoms:
Symptoms depend on the type of EB and which layer of skin cells is affected.The primary indication of epidermolysis bullosa is the eruption of fluid-filled blisters (bullae) on the skin, most commonly on the hands and feet in response to friction. Blisters of epidermolysis bullosa typically develop in various areas, depending on the type. In mild cases, blisters heal without scarring.

Signs and symptoms of epidermolysis bullosa may include:

*Blistering of your skin — how widespread and severe depends on the type
*Deformity or loss of fingernails and toenails
*Internal blistering, including on the throat, esophagus, upper airway, stomach, intestines and urinary tract
*Skin thickening on palms and soles of the feet (hyperkeratosis)
*Scalp blistering, scarring and hair loss (scarring alopecia)
*Thin-appearing skin (atrophic scarring)
*Tiny white skin bumps or pimples (milia)
*Dental abnormalities, such as tooth decay from poorly formed tooth enamel
*Excessive sweating
*Difficulty swallowing (dysphagia)

Causes:
In most cases, epidermolysis bullosa is inherited. Researchers have identified more than 10 genes involved with skin formation that, if defective, may cause a type of epidermolysis bullosa. It’s also possible to develop epidermolysis bullosa as a result of a random mutation in a gene that occurred during the formation of an egg or sperm cell.

Your skin comprises an outer layer (epidermis) and an underlying layer (dermis). The area where the layers meet is called the basement membrane zone. Where and when blisters develop depends on the type of epidermolysis bullosa.

The three main types of this condition are:

*Epidermolysis bullosa simplex. This most common and generally mildest form usually begins at birth or in early infancy. In epidermolysis bullosa simplex, the faulty genes are those involved in the production of keratin, a fibrous protein in the top layer of skin. The condition causes the skin to split in the epidermis, which produces blisters.

If you have epidermolysis bullosa simplex, it’s likely you inherited a single copy of the defective gene from one of your parents (autosomal dominant inheritance pattern). If one parent has the single faulty gene, there’s a 50 percent chance his or her offspring will have the defect.
Junctional epidermolysis bullosa. This usually severe type of the disorder generally begins at birth. In junctional epidermolysis bullosa, the faulty genes are involved in the formation of thread-like fibers (hemidesmosomes) that attach your epidermis to your basement membrane. This gene defect causes tissue separation and blistering in your basement membrane zone.

*Junctional epidermolysis bullosa is the result of both parents carrying and passing on the defective gene (autosomal recessive inheritance pattern), although neither parent may clinically have the disorder (silent mutation). If both parents have the faulty gene, there’s a 25 percent chance one of their offspring will have the defect and develop the disorder.

*Dystrophic epidermolysis bullosa. This type, whose subtypes range from mild to severe, generally begins at birth or in early childhood. In dystrophic epidermolysis bullosa, the faulty genes are involved in the production of a type of collagen, a protein in the fibers that attach your epidermis to your dermis. As a result, the fibers are either missing or nonfunctional.

Dystrophic epidermolysis bullosa can be either dominant or recessive.

An additional, rare type called epidermolysis bullosa acquisita (EBA) isn’t inherited. Blistering associated with this condition occurs as the result of the immune system mistakenly attacking healthy tissue. It’s similar to a condition called bullous pemphigoid, which also is related to an immune system disorder. EBA has been associated with Crohn’s disease, an inflammatory bowel disease.

Treatment:
There’s no cure for EB. Treatment involves reducing friction and injury, and preventing or treating infection of blisters to reduce chronic damage.

Treatments to reduce scarring and prevent contractures, and to help maintain nutrition when the mouth or oesophagus is affected, are also important.

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Antenatal tests are available for EB, at eight to ten weeks of pregnancy.

Recent research has focused on changing the mixture of keratins produced in the skin. There are 54 known keratin genes, 28 type I intermediate filament genes and 26 type II, which work as heterodimers. Many share substantial structural and functional similarity, but are specialized for different cell types or conditions under which they are normally produced. If a drug can shift the balance of production toward an intact keratin gene, symptoms can be reduced. For example, sulforaphane, a compound found in broccoli, was found to reduce blistering in a mouse model to the point where affected pups could not be identified visually, when injected into pregnant mice (5 µmol/day = 0.9 mg) and applied topically to newborns (1 µmol/day = 0.2 mg in jojoba oil).
Lifestyle & Home Remedies:
Careful wound care and good nutrition are essential to your or your child’s health. If blisters are left intact, they can grow, which creates a bigger wound when they finally break. Talk to your doctor about safe ways for you to break and drain blisters before they get too large. Your doctor can also recommend products you can use to keep the affected areas moist to promote healing, such as gauze that contains a moisturizing agent, and prevent infection.

Keep these in mind when tending to your child’s wounds:

*Always wash your hands before touching your child’s blisters.

*If a soiled dressing sticks, don’t pull it off. Soak the area in warm water until the dressing loosens.

If oral or esophageal blisters are inhibiting your child’s ability to eat, here are some suggestions:

*If drinking from breast or bottle causes your infant to develop blisters, try using nipples designed for premature infants or infants with cleft palate or a facial birth defect, or use a syringe or eyedropper.

*For older children, puree foods with extra liquid, such as broth or milk, to make them softer.

*Serve soft, nutritious foods such as vegetable soups and fruit smoothies.

Coping and support:
Caring for a child with a chronic disease can be stressful. And providing your child with the emotional support needed to live with a chronic illness and to deal with being different from other children can be extremely difficult. For some people, sharing concerns and information with families in similar circumstances can be beneficial.

Ask your health care providers for epidermolysis bullosa support groups in your area. If joining a support group isn’t for you, ask about counselors, clergy or social workers who work with families coping with epidermolysis bullosa.

Prognosis:
Without treatment, these patients are most often going to die from complications caused by epidermolysis bullosa. With treatment, there is a slight chance that the condition could be managed to prolong life, but the treatments are only newly discovered and will take some time to see if they work completely. It is important for those with the disorder to seek treatment when possible to increase the chances of surviving past their teenage years.

 

Prevention:-

It’s not possible to prevent epidermolysis bullosa, but you can take steps to help prevent blisters, for yourself or for your child.

*Handle your child gently. Your infant or child needs your touch, but be very gentle. To pick up your child, place him or her on soft material, such as cotton, and support under the buttocks and behind the neck. Don’t lift your child from under his or her arms.

*Moderate the temperature in your home. Set your thermostat so that your home remains cool and the temperature remains steady.

*Keep your child’s skin moist. Gently apply lubricants, such as petroleum jelly.

*Dress your child in soft materials. Use clothing that’s simple to get on and off.

*Trim your child’s fingernails regularly. Short fingernails will help prevent scratching.

*Have your child refrain from rough activities. Prevent older children from participating in contact sports or other activities in which skin can be rubbed or injured easily.

*Take care when dressing blisters. Don’t apply adhesive bandages or tape to the skin.

*Avoid hard surfaces and rough materials. Use sheepskin or other soft material on car seats and infant seats. Use a water or air mattress on your child’s bed and soft sheets and blankets.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

 

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/epidermolysis1.shtml
http://en.wikipedia.org/wiki/Epidermolysis_bullosa
http://www.mayoclinic.com/health/epidermolysis-bullosa/
http://www.epidermolysisbullosa.net/

http://library.med.utah.edu/kw/derm/pages/ph06_4.htm

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