The Care of the New Baby with EB
Care of the new Baby with Epidermolysis Bullosa (EB).
What is EB?
Epidermolysis Bullosa (EB) is a large group of genetically determined skin conditions.
The common factor within the group is the tendency for the skin and mucous membranes to blister and break down in response to minimal friction and trauma.
There are two ways in which EB can be inherited,
1. Dominant inheritance in which one parent generally has symptoms themselves, and there is a 50% chance in each pregnancy that their children will be affected.
Dominant inheritance can also occur as a new mutation – parents are unaffected, and the symptoms occur for the first time in their child.
2. Recessive inheritance in which both parents carry a hidden or silent gene for EB.
In every pregnancy there is a 1:4 risk that both genes will be passed to the baby, and that baby will be affected.
Types of EB
There are 3 major types of EB, these are simplex, junctional and dystrophic.
Within each group there are many different sub types and so each type of EB has a wide range of symptoms, varying from very mild to very severe. It is not possible for one type to change to another within the family.
This is generally a dominantly inherited condition, although there are a few cases of recessively inherited EB simplex, but these are very rare. There are 2 main types of EB simplex,
1. Weber Cockayne which generally affects hands and feet only and is at its most troublesome in the summer months.
2. Dowling Meara, which causes more wide spread blistering particularly in young children. Infants with Dowling Meara may be very sick in the first few weeks of life, but the majority will survive and the extensive blistering will gradually resolve. Blistering and thickened skin on the palms and soles can cause problems in the longer-term.
This is recessively inherited. Junctional EB can be a very mild condition, causing little disability and long term problems. However, in its most severe form junctional EB can lead to death in early infancy or childhood.
Dystrophic EB can be either dominantly or recessively inherited. In common with most genetic disorders, the dominant form is often a milder disease. However, recessive dystrophic EB varies in severity from very minor symptoms to severe skin loss at birth, and increasing disability as a result of contractural scarring.
Diagnosis is made by examination of a small piece of skin. We recommend this be analysed at a specialised centre where diagnosis of EB is routinely made.
Blood samples for DNA analysis are required from the infant and parents for identification of specific mutations.
Nurse the baby in an incubator only if medically necessary for reasons such as prematurity. Wherever possible nurse the baby in a cot, lay the child on a small soft pad so he can be lifted on this rather than risking further damage.
Where it is necessary to lift using your hands, roll the infant onto his side, place your hands behind the head and under the buttocks, allow the baby to roll back on your hands, and lift.
Never lift from underneath the arms. Remember, friction and shearing forces will cause blisters and skin loss, direct pressure is safe.
These must be lanced with a sterile needle as they are not self-limiting and will extend is left unchecked. Where the roof remains on the blister there is no need for a dressing.
Appropriate analgesia must be given prior to dressing changes and as required for general comfort.
Must be dressed with a non- adherent dressing. Choice of dressing is limited as many dressings described as non -adherent behave differently on the skin of those with EB.
Mepilex (Molnlycke) provides the optimum environment for wound healing and poses no threat to the surrounding skin on removal of the dressing.
For lightly exuding wounds or for those with EB simplex who react adversely to a thicker dressing; Mepitel (Molnlycke) is a more suitable dressing. The required secondary dressing can be changed daily to remove exudate and inspect the wound. Change the Mepitel dressing every 4 to 7 days.
Naked babies with EB tend to cause damage to their skin by kicking their legs together and rubbing their arms across their chests. For this reason we recommend dressing the infant in a soft all-in-one baby suit.
Wherever possible, oral feeding should be encouraged. If the mouth is very sore use of a special feeder recommended for a baby with cleft lip or palate reduces the need for strong sucking and allows a good delivery of milk. Babies with extensive skin loss may need additional calories to avoid competition of nutrients between healing and growth.
Tips on care and handling
Ensure all those who are caring for the infant know the correct method of handling.
Clamp umbilical cord with ligature rather than cord-clamp to avoid local blistering.
Avoid plastic identification tags.
NEVER apply adhesive tapes of any kind to the skin.
Use strips of Mepitel/Mepiform (Molnlycke) to secure IV cannulae.
Discourage use of dummies/soothers.
Use commercial plastic kitchen cling film as temporary dressings after bathing.
Select flat-seamed clothes or turn garments inside out to avoid friction.
The Inheritance of EB
You may be concerned about how EB has been passed down your family and how future generations may be affected. As already noted there are two types of inheritance pattern, dominant and recessive. They have different inheritance patterns and these are outlined below.
The basic thing to remember about dominant inheritance is that it is visible and that there is a 1 in 2 chance of children having the condition. With dominant inheritance if you haven’t got the visible condition you can not pass it on to your children.
With recessive inheritance there is only a 1 in 4 chance of a child inheriting the condition.
But there is a further 1 in 2 chance of offspring carrying the condition and so having the chance of passing the condition on. So there is a 1 in 4 chance of a child being totally free of EB.
Information may be sought from:
DEBRA International. (Dystrophic Epidermolysis Bullosa Research Association)
13 Wellington Business Park
Dukes Ride, Crowthorne
Berks. RG45 6LS
Tel: +44 (0)1344 771 961
Fax: +44 (0)1344 762661
Debra International Email
Debra International Website
DEBRA employ specialist nurses who can offer advice by telephone and practical help in the UK by visiting the infant and demonstrating care and handling techniques.
Your local specialist medical contact is:
Dr. Elena Pope – Section Head, Assistant Professor
Epidermolysis Bullosa Clinic
The Hospital for Sick Children
Clinic 7, Main Floor, Elm Wing
555 University Avenue
Toronto, Ontario, M5G 1X8
Phone: 416-813-6883 – use referral process to book an appointment, call 416-813-7384
Email Dr. Elena Pope email@example.com
SickKids EB Clinic webpage:
EB Clinic opened January 2004 at Hospital for Sick Children
Dr. Catherine C. McCuaig – Director, Epidermolysis Bullosa Clinic
3175 chemin Côté Ste Catherine
Montréal, Québec, H3T 1C5
Fax: 514-345-2134 Attention Dr. McCuaig
Pager: 514-345-4788 (6303)
Email Dr. Catherine C. McCuaig firstname.lastname@example.org
Dr. Juliette Prendiville – Division Head and Program Director
Division of Pediatric Dermatology, Department of Pediatrics
BC Children’s Hospital
UBC Faculty of Medecine
4480 Oak Street
Vancouver, BC, V6H 3V4
Email Dr. Juliette Prendville email@example.com
Your local DEBRA contact is: firstname.lastname@example.org
This booklet was sponsored by Mölnlycke and produced by DEBRA International, registered charity no: 284754
Molnlycke Health Care Limited
Tel: (0870) 6060766
Fax: (0870) 6081888
EB Dental Problems and Solutions
Individuals with EB may have teeth with severely malformed enamel (enamel hypoplasia) and/or dental caries depending on the EB type. The enamel is usually normal in simplex and dystrophic EB types. Generalized enamel hypoplasia is typically limited to junctional EB. Rarely, individuals with non-junctional EB types may have generalized enamel hypoplasia. Rampant dental caries occurs in junctional EB partly because of the enamel hypoplasia. Dental decay also is frequently seen in patients with severe recessive dystrophic EB. This excessive dental caries results from severe soft tissue involvement, which leads to dietary changes (soft and high carbohydrate), increased oral clearance time (secondary to limited tongue mobility and oral scarring), and creates an abnormal tooth/soft tissue relationship. Oral involvement also reduces the ability to practice preventive measures directed at reducing caries.
Because dental caries can form rapidly in individuals with recessive dystrophic and junctional EB, dental examinations should begin by 1 year of age and be conducted at least twice a year. If caries becomes a problem then more frequent visits (4 times a year) are indicated for preventive treatments and examination. Individuals with mild EB can be treated much as any other patient. The dentist should, however, be made aware of any history of mucosal fragility and oral blistering since dental therapy can precipitate oral lesions even in mildly affected patients. Many dentists are not familiar with EB and the patient or parent must help educate the health care team. An altered approach to treatment may be required in individuals with enamel hypoplasia or rampant caries, extreme fragility of the mucosa and/or the presence of microstomia (a decreased oral opening size). Individuals with severe soft tissue involvement requiring multiple restorative and/or surgical procedures are often best managed with general anesthesia.
Preventing tooth decay is most challenging for individuals with severe mucosal involvement. In patients prone to oral blistering, oral hygiene may best be accomplished with a soft bristled, small-headed toothbrush. Many small-headed children’s toothbrushes are available, some of which have special grip handles that may be helpful to individuals with hands involvement. Running the bristles under hot water prior to brushing makes them even softer. Parents need to brush children’s teeth until about the age of 6 or 7 years because children lack the manual dexterity to properly clean their teeth. Parents should be very careful not to damage the gums or make the brushing experience negative and unpleasant. It is important, however, that the teeth be cleaned at least once a day preferably just prior to bedtime.
Be sure and use fluoridated toothpaste. In small children a pea size amount is adequate to deliver the fluoride to the teeth. For individuals prone to developing cavities there are special high strength prescription fluoride toothpaste. Strongly flavored toothpaste (mint) may be irritating to the individuals with severe oral involvement; however, there are numerous non-mint flavors available. Bubble gum flavor is a big hit with children (and some adults). In addition to the systemic fluorides that we get in the water or alcoholic fluoride rinses available for the EB patients that are sensitive to strong flavoring agents and alcohol. Non-alcoholic rinses with greater amounts of fluoride are available by prescription. Chlorhexidine mouth rinses (an antibacterial rinse) also may assist in controlling dental caries; however, sensitivity due to the high alcohol content can be problematic. This may be overcome by swabbing it directly on the teeth. Chlorhexidine rinse is a prescription item.
There are a variety of fluoride treatments applied by dentists. The most common treatment consists of placing a 1.23% acidified gel in a tray that is held in the mouth for 4 minutes. The high concentration of flavoring agents and acid nature of the gel make it unacceptable to some EB patients. Milder flavored neutral sodium fluoride gels are available that may be less irritating to fragile mucosa. Recently, a high concentration fluoride varnish has become available in the United States offering a wonderful option for delivering maximum fluoride protection to the teeth of individuals with even the most sensitive mucosa. This varnish is simply painted on the teeth by the dentist.
The diet constitutes major difficulty in caries control, and due to the complex systemic nutritional demands of individuals with severe EB types, this may be best managed with the assistance of a dietician. The effects of any diet planning should be considered with regards to dental health and tooth friendly foods (cheese, vegetables, fresh fruits) eaten as much as possible. Be careful of the less obvious cavity-producing foods such as highly sweetened breakfast cereals, raisins and dried fruits. Cavity-producing oral bacteria can ferment carbohydrates from a wide variety of foods. Other helpful hints are to rinse the mouth or drink water after eating if brushing is not possible. Bottle or breastfeeding infants at bedtime can result in nursing caries after the teeth are present (1 year of age). If nursing continues after 1 year, great care should be taken not to give the bottle while the infant is going to bed. Virtually any bottle-fed liquid, except water, can cause rapid tooth decay of the baby teeth.
Individuals with even the severest forms of EB can now maintain their natural dentition providing them the ability to chew, eat a healthy diet and have a pretty smile. In the not too distant past, dental extraction was considered the treatment of choice for individuals severely affected with EB. Now we are able to prevent tooth decay, restore malformed enamel and help produce good alignment of the teeth. The future looks even brighter as dental prevention continues to improve, new dental materials are stronger and more esthetic than ever and new technologies, such as dental implants, continue to improve. Dental health for all EB patients has become a reality and that is really something to smile about.