EB and the Eyes

This is the transcript of a helpful book from DebRA U.S. in regards to EB and how it effects the eyes.

Thank you Brenda for taking the time to type this up for us!!!

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Problems with the eyes can occur in most forms of Epidermolysis Bullosa (EB). The eyelids, conjunctiva and the cornea may all be affected by EB. Fortunately there are means to prevent or reduce these eye problems. With good understanding, prompt and appropriate care can be given to reduce complications. In some cases, potential problems can even be avoided. Eye problems can be causes by trauma such as rubbing or scratching, from irritation such as heat, wind or dust, or from dry eyes. However, at times eye problems may be spontaneous; that is, they occur for no known reason.

What eye problems can occur in a person with EB?

The most common eye problems associated with EB are: conjunctivitis, blepharitis, corneal erosion, and ectropion.

Conjunctivitis an inflammation of the conjunctiva, which is the mucous membrane lining the eyelids and covering the anterior portion of the eyeball. The signs of conjunctivitis are redness, pain, eyelid swelling and tearing.

Treatment: Application of warm, sterile compresses and antibiotic ointments help to clear the infection. Topical steroids may be prescribed by a doctor to reduce inflammation. Rubbing of the eyes should be avoided.

Blepharitis an inflammation of the eyelids. The signs are crusting at the base of the eyelashes with ulcerations at the lid margins, gritty foreign body sensation, mucous discharge and mildly red eyes. Photophobia (sensitivity to light) is absent or very mild. Chronic blepharitis is associated with loss of eyelashes. Blepharitis may clear up promptly or persist for long periods. It does not seem to follow the course of blistering elsewhere on the body.

Treatment: Proper eyelid hygiene to clean the lid margins of crust and debris is followed by application of an antibiotic ointment.

Corneal Erosions or Ulcerations – The inflammation of the cornea with the formation of an ulcerated area. They can be both trauma induced and spontaneous and are most distressing problems. Indeed, recurrent corneal erosions syndrome is frequently seen. Typical signs of corneal erosion are sudden onset of pain and photophobia in on or both eyes associated with tearing and a red eye. Frequency of occurrence follows frequency of blistering elsewhere on the body.

Treatment: Antibiotic ointment is used to reduce bacteria and provide lubrication. If spasms of the eye muscles occur, medication may be prescribed to provide comfort until symptoms subside. Corneal erosion usually heals spontaneously in two to three days. In older children and adults, soft contact lenses have been used to minimize frequent recurrences.

Ectropion A condition in which the eyelids turn outward. It occurs rarely in people with EB.

Treatment: Eye surgery may be considered to remove scar tissue, and skin grafts may be indicated.

At what age can eye problems start?

Eye problems may occur at any age In infancy, teens or adult age. Some people with EB may never have eye problems.

Are the eye problems severe?

The severity of eye involvement with EB depends on the type of EB, the degree and sensitivity of the particular person, and the various conditions to which he or she is exposed. Complications generally are not severe and can be minimized with good eye care. Visual prognosis is generally good with no loss of vision and no greater need for eyeglasses than anyone else. The main mechanisms for vision, including the lens, the retina and the optic nerve are usually not involved. However, the symptoms can be rather annoying.

What kind of doctor can treat eye problems?

While a family physician/pediatrician can treat eye infections, if you or your child has frequent eye difficulties or if corneal erosions occur, an ophthalmologist should be consulted. He has the expertise and equipment to conduct a proper and thorough eye examination and give appropriate treatment. Your regular doctor can refer you to an ophthalmologist.

What happens during an eye examination?

During an eye evaluation, the ophthalmologist will ask questions about any prior problems you have encountered. Your eyes will be examined using various instruments. Fluorescent drops or dye with an anesthetic ability may be inserted in the eye to outline any areas of erosion and to facilitate the examination. Your vision can also be tested. The doctor may take a culture to identify any bacteria and prescribe proper medication.

When examining an active infant with EB, great patience is required in order to avoid additional trauma to the eye during the exam.

Suppose eyeglasses are needed?

If eyeglasses are required for visual needs, padding the frame at the bridge of the nose and over the ears may be necessary to avoid blistering in these areas. Wire frames with plastic lenses certainly minimize problems because they are lighter weight than frames with glass lenses.

Can contact lenses be used with EB?

Soft contact lenses have been used by some people with EB as a protective covering. They may guard against irritation and scratching of the cornea as well as hold medication in place, increase healing, and reduce incidents of eye involvement. They also serve as an alternative to a patch. Soft contact lenses require extra moisture to maintain pliability. If contact lenses are to be worn they should be fitted and supervised by an ophthalmologist (MO).

Therapeutic soft contact lenses have been used in older children and adults to minimize recurrences of corneal erosion. They are not advised in small children. The user must be old enough to cooperate in fitting and adjustment of the contact lenses. In addition the user must be able to maintain proper care and cleaning of the lenses and have the ability to insert them.

Will patching the eye help?

Patching for a day or so can sometimes alleviate pain associated with corneal erosions. Do not use tape to patch the eye. Apply a pirate type patch instead. Use cautiously with small children who may rub the eye through the patch causing further irritation. Be sure that the band or string holding the patch in place is padded or loose enough so it does not cause additional blistering.

Is surgery ever required for eye problems?

On rare occasions eye surgery may be considered to remove scar tissue. Skin grafts may be indicated to repair ectropion, a condition in which the eyelids turn outward.

How is eye medication applied?

Eye medication may be in the form of drops, ointment or a solution. In some cases the Physician may instruct you to apply an ointment directly to the margins of the eyelids when they are closed. More often, the medication will be inserted into the eye. Care should be taken to apply the medication properly for the most effective results and at the same time avoiding any additional trauma to the eye.

To apply eye medication into the eye:

Wash hands thoroughly.
Open eye medication container.
Tilt head back or lay down.
Place finger under eye and gently pull down lower lid to form a small pouch or pocket between eye and lower lid which will hold the medication.
Gently squeeze the recommended number of drops or a small strip of ointment into this pouch or pocket.
Avoid touching the eye with the dropper tip. Do not allow the tip of the container to touch your fingers, your eye or any other surface.
Close the eye and move the eyeball from side to side and up and down. This distributes the medication over the entire eye.
Wipe off any excess medication from around the eyes with a clean, dry cloth, preferably disposable.
Keep the eye closed one or two minutes.
Wash hands thoroughly.

Repeat procedure with the other eye. It may be difficult to apply the medication if the eyelid is swollen and painful. Slight pressure on the lower lid is often insufficient to open the eye and additional pressure may be required about the upper lid. This should be done with the FLAT of the forefinger to distribute the pressure as evenly and as gently as possible or more blistering could result.With a child or baby, do not pry the eyelids open as this can cause more blistering. Great patience is required to gain the infants cooperation. Use another family member to draw the childs attention or attempt to apply the medication when the infant is sleeping. If you or the child become frustrated, stop and relax a few minutes before attempting again.If you are applying the medication to yourself, it can be done in front of a mirror. If you are applying it to someone else, have them sit in a chair with the head tilted back.
How is the eye irrigated?

Your physician may suggest irrigation or flushing the eye with water or a sterile solution to cleanse any eye discharge. It is important to only do one eye at a time. Turn the head to the side. Place a container or towel under the head to catch any solution run-off. Pour or flush the recommended solution from the inner area of the eye near the nose so fluid flows out towards the temple. Be sure that the solution used for cleansing one eye does not get into the other as it can cause cross contamination or spreading of infection. Dry carefully with a clean disposable cloth. Wash hands thoroughly. Turn head to the other side and repeat procedure for other eye with fresh solution.

Tears and Lubricants

Why are tears so important?

Tears protect the eyes from infection and irritation and keep them moist and comfortable by forming a protective covering or film on the surface of the eyes. When a person cannot produce or maintain the vital fluids or tears needed to lubricate the eyes, the condition known as dry eye occurs. The eyes will become dry and sensitive to light, and blurring of vision, itching, burning, or a sensation of something in the eye may occur. Stringy white threads of mucous may accumulate in the lower part or corners. Inflammation of the mucous membranes and dryness of the eye cause the cornea to become easily damaged and scratched.

Tears prevent the cornea from becoming dry. In addition, tears help clean the edges of the eyelids. When moisture is reduced there is an increased chance of infection. When babies or young children are dehydrated from fever, illness or poor nutrition, there may be a decrease in the amount of tears they produce.

Why is there sometimes an increase in tears?

Excessive tears may be a sign of increased sensitivity to light, wind or temperature changes. In these cases, protective measures (such as sunglasses) may solve the problem. Tearing may also indicate more serious problems such as eye infection or a blocked tear duct, both of which can be treated and corrected. Occasionally, eyes may be watery because the eye is irritated and responds with an excess amount of tears as the body attempts to keep the eye lubricated.

What can be done to keep the eyes lubricated?

Moisture of the eye may be increased through the use of eye lubricants on a regular basis to prevent or reduce trauma associated with dry eyes. Lubricants in the form of eye drops and eye ointments keep the eye surface moist and help prevent scratching on the inner eyelid. Lubricants should be used several times a day as well as at bedtime. During the day lubricating eye drops can be used. Ointments blur vision and should only be used at night. Remember: drops during the day, ointment at night.

What lubricants are recommended?

For daytime use: Liquifilm+, and Tears Naturale+ are two brands of artificial tears which can be used two to three times a day. They help increase healing, decrease pain and decrease incidents. Refresh+ is another product. It contains no preservatives and is good if frequent application is required.

At Bedtime: Lacrilube+ and Duratears Naturale+ are two ophthalmic ointments which can be used at bedtime to coat the eye during sleep. They keep the eye surface moist and help prevent scratching on the inner eyelid. Use at bedtime on a regular basis to prevent trauma associated with dry eyes. Do not use during the day as ointments can blur vision.

What are artificial tears?

Artificial tear eye drops act like normal tears to soothe, lubricate and protect your eyes and guard against excess drying of secretions. They relieve most symptoms of dry eye and work better and longer than tap water. They are sterile so there is no chance of infection from bacteria.

What are some brands of artificial tears?

Some brands of artificial tears: Liquifilm+, Tears Naturale 11+, and Refresh+.

Caution: Over the counter eye drops may contain antihistamines which can reduce tear production and cause additional drying of the eye. Some over the counter products contain preservatives which may cause more irritation. Be sure to check with your physician for his/her recommendation before using any eye medication.

How can the eye be protected from irritants and trauma?

Anything that will irritate or dry out the membranes covering the eyes. This includes the following:
Avoid air conditioners and heating vents, car vents and fans which blow directly on the eye.
Avoid wind, dry heat, dry and drafty places.
Avoid dry, arid, windy or desert type environments.
Avoid exposure to smoke and air pollution.
Avoid vapors and fumes from aerosol sprays such as hair spray, spray deodorant, and spray perfume.
Avoid getting shampoo in the eyes when washing hair. Use gentle no tears type of shampoo.
Avoid scratching or rubbing of the eyes.
When the heat comes on in the house it can increase dryness in the room and cause an increase of eye problems. This is especially true in the autumn when heating season first starts. Start using a humidifier.
When using hair dryers do no direct the blower toward the eyes.

Helpful Hints

Mucous in the eye may be rinsed away with sterile saline solution. Contact lens solution may be used. Use carefully to avoid getting saline solution in any open wounds elsewhere on the body.

While sleeping, a crust may form on the eyelids causing them to stick together and making it difficult to open the eyes. The eyes can be bathed with warm soaks to soften and cleanse these crusts away.
Add moisture to room with vaporizer or humidifier to avoid drying of the eye membranes. This is especially important when the home heating unit produces very dry air in the room. Be sure to clean the unit frequently and completely to avoid a source of infection in the home. Note:Humidifiers on the furnaces are not as effective as a separate humidifier.
If infection occurs, antibiotic medication is necessary. Contact your physician.
Always wash hands thoroughly before and after touching eyes to avoid transmission of infection.
Pain and swelling may be reduced by applying warm compresses over the eyes.
On windy days, protect the eyes when going outside. An infant can be shielded with clothing or blankets. A child or adult may sunglasses. It may be advisable to stay indoors temporarily on very windy days. If travel is necessary, have the child close its eyes while he or she is carried or escorted by hand to a car or school bus.
When traveling in a car, be aware that an open window can cause wind-like conditions to the occupants even on a calm day. A person riding in the back seat may be exposed to wind from an open front window which may not affect the passengers in the front seat. What is photophobia?Photophobia is a condition in which the eyes may be sensitive and intolerant to light or sun. Bright room lights may be bothersome and even painful. When this condition occurs, keep the room darkened until the sensitivity starts to subside. The use of sunglasses may help the discomfort. My child’s eyes are swollen closed. What can be done?
See our eye doctor as soon as possible; every sore can be different. Why waste time and worry? Get the facts and proper care for your childs personal case.

When a childs eyes are swollen closed and cannot be used for several days, it presents a challenge to be able to cope with the activities of daily living. This is compounded in a child with EB.
First, consider some practical steps: darken the room to avoid light sensitivity; apply warm soaks to the eye to reduce swelling; loosen crusting and soothe the eye; provide sunglasses when the eye first open to reduce photophobia.
Next, provide assistance for usual routines. Even walking from room to room can create a hazard. A person can bump into furniture or trip and fall over unseen objects and cause trauma to other areas of the body.
Finally, if a childs eyes are closed for several days at a time from swelling, corneal erosion or patching, it is important to address the childs emotional needs as well as physical needs. It is very easy for a pattern to form where the child can become bored, withdraw into a shell and become remote from the world. Sometimes they may act up or act out in a non-acceptable fashion such as tantrums and demanding behavior. It is important to remember that these are all signs of anxiety and fear. This is a trying time for parents, caregivers or health professionals. It also presents an opportunity to challenge creative skills.
The child should participate in normal household activities as mush as is possible during this time. The child can be motivated to use other senses in playtime in an effort to interact with others and relate to the outside world during this time of temporary loss of use of the eyes. Games and activities that emphasize the other senses, i.e. touching, hearing smelling and tasting should be introduced. Guessing games can be played to have the child identify different types of articles or materials through the use of touch, smell or hearing. In addition, this presents a perfect time to read to the child or for the child to gain an appreciation for good music. It can be a very positive, productive time between parents and child.

Glossary

Blepharitis Inflammation of the eyelid.

Conjunctiva Mucous membrane that lines the inner surfaces of the eyelids and covers the anterior surface of the eyeball except for the central portion of the cornea.

Conjunctivitis Inflammation of the conjunctiva.

Cornea the clear transparent portion of the eyeball which covers the pupil and serves as the window of the eyeball.

Corneal Erosion/Ulceration Inflammation of the cornea with formation of an ulcerated area.

Ectropion Eversion or turning of the eyelid outward.

Iris Colored portion of the eye.

Keratitis Inflammation of the cornea.

Keratoconjunctivitis Inflammation of both the cornea and the conjunctiva at the same time.

Optometrist A non-physician trained and licensed to examine the eyes for the purpose of prescribing eyeglasses.

Ophthalmologist A medical doctor who specializes in treating diseases of the eye.

Photophobia Intolerance of or sensitivity to light which causes pain or discomfort.

Pupil Circular opening in the center of the iris.

Visual Acuity Sharpness or clearness of vision.

Physical Therapy

I put this page together with the aid of a little booklet distributed by DEBRA UK called “A guideline to physiotherapy for parents of Children with Dystrophic Epidermolysis Bullosa”.

As the booklet states, this page is most useful for parents who have a child with Recessive Dystrophic Epidermolysis Bullosa.

The importance of movement

Most people move their joints fully every day and don’t hold them stiffly unless they are hurt-in EB there is often blistering (with scarring) of the skin near and around the joints which can stop them from moving fully. This, in turn, makes the joints stiff. This is why movement of the joints is vital to help prevent movement from becoming permanently lost.

We are all guilty of trying to prevent our loved ones from being hurt. It is particularly difficult for parents of EB children not to wrap them up in cotton wool and stop them from being adventurous. But mobility is absolutely necessary for these children. They need to keep their joints mobile to prepare them for all of life’s activities.

Babies

Babies should be put on their stomach to play (PLAY ONLY NOT SLEEP!!!). This is a good position to learn movement, and it helps prevent tightness developing at the hips and knees

Contractures

Because of scar tissue at the joints, muscles and other soft tissues shorten around the joint which in time can permanently lose some of its movement. If this continues, they can worsen and may make certain activities difficult or even impossible. If you notice your child being unable to fully move any of his joints, it is a good idea to encourage him to move to its limit and then repeat asking him to go as far as possible each time. When done early, he can get back to normal, avoiding further stiffness.

Walking

It is important for your child to walk a short distance each day (if old enough) usually regardless of blisters on the feet. When they are very sore, encourage the use of tricycles or other activity toy to move independently.

Swimming

This is a lovely form of exercise. By encouraging your child to participate early he will be allowed to compete on equal terms with his peers. Make sure to go armed with plenty of moisturizers for afterwards.

When to exercise

As soon as little stiffness is noticed it is a good idea to begin. Exercises are best done several times a day if there is stiffness, if not, allowing the child to be generally active is good.

Which exercises are most important

All children with EB should be encouraged to lie on their stomach daily.
Mouth exercises are of benefit to people with RDEB as most have some tightness. They should be done each day with the care of teeth.
Hand exercises should start immediately.

Exercises

Hips

Hips often stiffen, particularly if a child sits for much of his time. Prone lying each day helps stretch them out. Lie on front. Lift right leg straight behind. Repeat with left leg.

OR This same exercise can be done standing holding on to something for support-such as a chair.

Knees

Knees too can lose flexibility and if bent for long periods can result in an inability to straighten fully. Prone lying will help to prevent this. Lying on back- Tighten muscles hard and pull feet “up” at same time count to 5 slowly.
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then Straighten one knee fully and tighten. Lift that leg into the air, then lower. Repeat with other leg. (NEVER do both legs together as this can lead to back problems)

OR Straighten one leg when sitting on a chair and hold for the count of 5. Repeat with other leg. Make sure the chair has a back and that your child does not cheat by leaning back (holding on to the front of the chair with his hands may stop this)

then Bend right knee up taking the heel toward the bottom. Repeat with left knee. This exercise can be done lying on one side if for some reason your child cannot lie on his back.

Mouth

Most children with RDEB develop tightness of the mouth stopping them from opening it fully. The tongue can become immobile too. This makes dental care more difficult. It is important to combine these exercises with daily teeth cleaning (which is so essential). Stick the tongue out as far as possible and move it up and down and side to side. then Open the mouth as wide as possible (saying “eee”).
If your child is sensible he can gently pull the corners sideways with a finger at each side to give a gentle stretch. then Open the mouth as wide as possible to form an
“o”

if your child’s mouth cracks, use a little moisturizer or a lip balm before starting exercises.

Neck

If the neck stiffens, these exercises help stop this from happening. Turn head to right fully and then to left fully keeping shoulders facing forwards.

then With face looking straight ahead, take the left ear towards the left shoulder-Repeat to right.

then Look up to the ceiling and then down to the floor.

Shoulders

Because clothing frequently causes blisters and dressings are difficult to keep in place, children often avoid reaching with their arms above their heads as it pulls or clothes rub. This can lead to permanent tightness. These exercises are to be encouraged when reduced movement is first noticed. Lift arms out to side up to shoulder level and then to ears and lower.

then Lift arms forwards and straight above head with elbows straight.

Elbows

Elbows too can become a little difficult to fully straighten or palms turn up. Bend elbows and touch shoulders, then straighten with PALMS UP. Check that the wrists can move fully up and down.

Hands

RDEB sufferers experience particular problems with joints of the fingers and hands. Regularly check that your child’s fingers will fully straighten. This can be done by putting them flat on a table. If they have become a little bent or are being always held bent start daily exercises. The webs between the fingers can begin to creep up towards the tips in this condition, exercises cannot stop the webbing, but dressings and hand wrappings seems to help. With the fingers a little apart, straighten the fingers fully. Check that they are completely straight on a flat surface.

Feet

Blisters on the feet can discourage your child from walking. Bandages should not be too tight over the tips of the toes so that they can grow properly. Ensure that your child’s ankles are not stiff as a result of habitually walking on its heels or toes to avoid blistered areas. If tightness is noted, this exercise should help. Pull feet up and then push down.

Basic 101 Care

This page was put together with the aid of a little booklet distributed by DEBRA UK called “Care and Management of Children with Dystrophic Epidermolysis Bullosa”.

Because of the rarity of EB, many parents have not been helped by the medical community, and hospitals have even injured these children by applying tape, bracelets, sucking the liquid from the mouth… (only proceeding in taking all the skin off also in the process) on these fragile newborns. The following are BASIC 101 care needs and knowledge for an EB child… something that, unfortunately should go without saying, but every parent wishes they would have known (and wishes the doctors would have known as well) when their child was born…

Blisters

POP THE BLISTERS!!!!!!! Yes, you can’t get anymore basic than this. These blisters have a tendency of increasing in size incredibly fast, and since they leave behind quite a remarkable wound, the smaller the blister, the smaller the wound. Leave the roof on the blister because it will protect it. Do not just put a hole on the blister, make sure to tear it so there is no chance for it to re-fill. Sterile needles can be used or scissors.

Lifting the child

Before handling any child with EB, remember that friction will cause blisters and skin damage, but direct pressure will not (unless this is a Simplex DM child). Children of any age who suffer from Epidermolysis Bullosa must NEVER be lifted from underneath the arms, as painful blistering will always result and this area is notoriously difficult to dress and to heal.

Bathing

Naked children are very vulnerable, for this reason most babies are sponge bathed once a day until they can sit well on their own. At that time the child can be immersed in water on a piece of foam or soft tub, which prevents damage from the child kicking the tub and such. To pick up this child use arms instead of hands, as the children get older they should be encouraged to climb in and out of the bath themselves in order to avoid skin damage caused by lifting them. There is no need to give these fragile babies/children a bath every day, water dries the skin too which is bad news for any EB patient.

Wound Care

Gauze should NEVER be put over a raw wound… NEVER! When the gauze is taken off it will be stuck to the wound and it will be not only painful getting it off, it will also take off the healing taking place. Use either a non-stick pad such as Telfa, Mepital or Vaseline gauze (put extra Vaseline as needed). Tape can be used to secure the wound as long as it does not have any chance to come in contact with the skin, however, using tube gauze is far preferable to tape. It is a good idea to pad these children’s entire body to PREVENT new blisters. Remember, is far less painful to sweat than to have open wounds.

Diapers

This one will depend on the child, but most kids do fine with Huggies Supremes or Ultratrims, use a size bigger if necessary to make sure they are not too tight. Cloth diapers are the only alternative. You may need to put Vaseline around the waist and leg areas to decrease friction, or cut the elastic around the diaper.

Nutrition

Children with EB have an increased requirement for nutrients as they are attempting to grow without diverting some of the nutrition into wound healing. Unfortunately, there are many factors (including blisters in the mouth) which impair eating in these children and heroic efforts must be made to supply the correct balance. For babies, use the powder formulas and increase the dosage of powder to make a more caloric meal-this tip came straight from Stanford. If your child cannot use powder formulas for whatever reason, try using extremely HOT water for mixing first, if not, use liquid concentrated formula, but check with the pediatrician first for dosage. For children over 1 year old, PediaSure seems to be the best bet.

Crawling and Walking

Children with EB often crawl and walk later than other children. This is because they tend to be cautious because they are hurting and/or are afraid of falling. However, once mobile, they quickly gain confidence. Each child develops different, so as one EB child might walk early, one other may walk very late, as normal children do too.

Eating Difficulties

Often babies with RDEB have a sore mouth, because the skin inside the mouth can blister the same way as the rest of the skin. Most children with Recessive Dystrophic develop “microstomia”, a small mouth opening, causing problems with putting food into the mouth. Fusion of the tongue to the floor of the mouth, makes it difficult to move the food to the back of the mouth for swallowing. Although teeth “can” be (not for all kids unfortunately) structurally normal, they are prone to decay in view of the necessity for a high calorie diet, poor access for teeth cleaning, and often a reluctance on the part of the child as the mouth is sore. The “labial sulcus”, the space between the inside of the lips and the lateral surface of the gums, is often lost as a result of scarring, this leads to a reduction in the circulation of saliva and adds to the problems experienced when chewing and swallowing.

Swallowing difficulties

Some children experience recurring blistering of the esophagus. Unfortunately, these blisters tend to heal with scarring in the same way as blisters on the external skin. This can cause strictures, which are narrowed areas of the esophagus. These strictures can be severe, and sometimes a semi-liquid or liquid-only diet can be taken. Many children will choke on a blister to pop it, but be reassured that it is the esophagus and not the trachea that is blistered, hence breathing is NOT impaired.
Side note from a patient with RDEB: some patients have had problems with breathing later in life due to scarring close to the esophageal flap.

Webbing and Contracting

Most children with Recessive Dystrophic EB, particularly the ones with the Hallopeau-Siemens subtype have a tendency of webbing and contracting on the fingers and toes. Webbing means that the fingers can become fused together, contracting meaning they will contract toward the palm. Despite meticulous care, some children require plastic surgery to divide the fingers and to restore function of the hand. This happens because of too much scar tissue prevents the growth of the hand.

Constipation

This has been described as being the worse complication of all. It may start somewhere around the child’s first birthday and it takes just one hard stool to blister the anal margin, and the cycle of holding back will begin. Even a young baby will soon learn to avoid opening his bowels and so avoid the pain. A combination of laxatives, increased fiber in the diet will help, but the dosage will need to be regularly reviewed and adjusted.

Anemia

Regular blood loss is the main cause of Anemia in children with RDEB. Iron supplements and a diet rich in iron, fiber but *especially* protein can help.

Care of the Eyes

In many children with RDEB the surface of the eye can blister in the same way as the external skin. Blisters on the eye are often caused by the infant or child rubbing the eye or by a foreign body traumatizing the conjunctiva. Child should immediately be taken by an optimologist and given a local antibiotic. The eye must never be forced open for medical examination as further damage will be done. Apply the ointment to the corner of the closed eye and it will melt and run in. Scarring may develop in the eye which can impair vision.

Cancer

A complication of Dystrophic EB seen in adults is the appearance of skin tumors called “Squamous Cell Carcinoma”. If these are identified quickly they can be removed before metastatic spread occurs.

For New Parents

For New Parents
I put together this page with the aid of a leaflet distributed by DEBRA UK called “Dystrophic Epidermolysis Bullosa Initial Information for Parents”. The leaflet this information is taken from is specific about caring for newborns of the “Dystrophic” form of Epidermolysis Bullosa, however, most of the information is valid for the other forms as well.

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Epidermolysis Bullosa (EB) is the name given to a group of genetically inherited skin disorders, all characterized by the fragility of the skin, and a tendency for the skin to blister when subjected to friction.
There are many different types of EB, but the three main types are simplex, Junctional and dystrophic.
Each of these types are like a completely separate disease. It is not possible for one type of EB to change to another type.

Your baby has the dystrophic type of EB.
Dystrophic EB can be inherited in 2 different ways:

1. Dominant dystrophic EB occurs when one parent actually has EB and has skin which is fragile and blisters easily. There is a 1:2 chance whenever that parent has a child, that the child will inherit EB.

2. Recessive dystrophic EB is always a shock to parents as neither parent suffers from the disease themselves, both are what we call healthy carriers. Every time two parents who are carriers of EB have a baby there is a 1:4 chance that the baby will be affected by EB.
If only one parent is a carrier, then there is no risk that the baby will be affected. Unfortunately, at present there is not a test available to detect carriers, wen we only know parents must be carriers if they have an affected child.

As a general rule, dominant dystrophic EB is a milder condition than recessive dystrophic EB.
There are many variations in the severity of dystrophic EB. The condition of the baby at birth is not an indication of the severity of the disorder.

Many babies with dystrophic EB are born with denuded areas of skin, typically over the feet and lower legs. This is thought to have been caused by the baby kicking in the womb and knocking the feet together. Further problems can result from the birth, and handling immediately after birth.

With the application of dressings, the feet will heal, usually over a period of several weeks.

There is a tendency for the toes to fuse together, even if the dressings are done with great care, and dressings have been put between the toes. This will not affect the child’s ability to walk. Toe nails and finger nails are often lost when blistering occurs under the nail bed. These do not always re-grow.

You will quickly learn how to handle your baby without damaging the skin, but remember that however careful you are, the baby will always have some blisters.

The best way for you to pick up the baby is by gently rolling him away from you, placing one hand under the head, and the other under the bottom, allow the baby to roll back onto your hands and lift, rather than sliding from the cot.

For friends and relatives it can help to place baby on a thin cushion and let them lift from underneath the cushion.

You will soon become expert at handling and will be able to handle the baby without thinking through every step. Although you may want to protect baby and want to be the sole carers, remember to teach relatives and close friends how to look after your child. It is important to be able to leave your child feeling confident that he or she is well cared for so you can go out for the evening or in the event that you yourself are unwell.

Clothing
At first, a soft babygrow is ideal. As the child becomes older underclothes can be worn inside out to prevent seams from rubbing, Always remember to remove labels which can rub and cause blisters.

Car Seats
A normal car seat can be used, but wrap a soft cloth or muslin under the straps to prevent rubbing on the face. Do the same with indoor baby chairs and pushchair straps.

Feeding
Often babies with dystrophic EB have a sore mouth, because the skin inside the mouth can blister in the same way as the rest of the skin. This does not usually affect feeding as babies, but can cause problem with older children.

If bottle feeding, it helps to wet the teat with cooled boiled water as a dry teat can stick to the blisters.

It is important that the baby has plenty of calories and other nutrients as some of the goodness will be diverted into wound healing and the rest is needed for growth.
If necessary the dietitian can add supplements to the feeds to make them richer. Watch out for constipation which is very common in all of those who have EB. The skin around the bottom may blister, causing soreness, and the baby will be reluctant to pass a stool. Again, the dietitian can advise on the prevention and management of constipation.

Crawling and Walking
Children with Dystrophic EB often crawl and walk later than other children. This is because they tend to be cautious because they are anxious that they will feel sore. However, once mobile, they quickly gain confidence.

Scarring
In dystrophic EB there is a tendency for the blisters to heal with scarring. Physiotherapy can help to prevent such scars from causing reduced mobility. In the very severe forms of dystrophic EB some children develop contractures of the hands and may need corrective splintage and plastic surgery.

Dental Care
The teeth in dystrophic EB are normally formed, but extra care must be taken with oral hygiene as blisters in the mouth can make it difficult to keep the teeth clean.

A day at a time
In the first few weeks with your new baby try to take one day at a time, and not to rush ahead thinking about years to come, as no one can predict at this stage how EB will affect your child in the longer term. Most children will not develop all of the complications, and many are only mildly affected.

Prenatal Testing
If you wish to have more children, there is a test available in pregnancy to determine whether the baby is affected by dystrophic EB. The test is either in the form of chronic villous sampling after the 10th week of pregnancy, or a skin biopsy from the baby in the 15th week. A blood test from both parents and all their children is required to determine suitability for the earlier test.

EB Info World

Supporting families dealing with Epidermolysis Bullosa.

Monthly Archives: October 2010

EB and the Eyes

Physical Therapy

Basic 101 Care

For New Parents