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.
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.
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.
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.
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.
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.
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.
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.