Severe recessive dystrophic epidermolysis bullosa (RDEB)

Severe recessive dystrophic epidermolysis bullosa (RDEB) is one of four broad categories of epidermolysis bullosa (EB) which is a rare genetic skin disease with varying levels of severity. The extent of skin fragility depends on whether a child has little or no collagen.

Types of recessive dystrophic epidermolysis bullosa (RDEB)?

Recessive dystrophic epidermolysis bullosa  – severe generalised (RDEB-SG)

In this form, the skin is extremely fragile, often with extensive blistering and wounds. There is usually no collagen VII present. Wounds tend to heal with a scar that can lead to contractures and impaired movement, particularly affecting the hands. The linings of the mouth and the oesophagus (swallowing tube) are also fragile leading to problems with feeding and nutrition.

Recessive dystrophic epidermolysis bullosa – generalised intermediate (RDEB -GI)

There is usually some collagen VII present in the skin. There is a tendency for the skin to blister and for wounds to develop, the extent being dependent on the amount of collagen VII present. The lining of the mouth and oesophagus are usually fragile. The hands will be scarred with some contractures but the severity is less than those with RDEB-SG.

Dystrophic epidermolysis bullosa pruriginosa (DEB-PR)

Children with DEB-PR will experience the skin fragility already described above, but will also suffer from intense itching and the resulting scratching causes further blistering.

Recessive dystrophic EB inversa (RDEB-I)

In this type of RDEB, the skin is also fragile and heals with scarring. However the damage tends to be less widespread and is often worse in the neck, groin and underarms. Hands become scarred but not severely contracted. The lining of the oesophagus is very fragile and can cause more problems than in other types of RDEB.

There are also several other rare types of RDEB not described here.

Is there a cure?

Not yet, but research continues. There is still a long way to go, but an effective treatment to prevent the blistering may ultimately be possible.

Practical care

Babies with RDEB may be born with large areas of skin absent especially over their feet and legs. These wounds are often sustained before birth as a result of friction from the baby kicking in the womb. Further damage can occur during the birth.

These wounds must be dressed and may take several weeks to heal.

Unfortunately the resulting scarred skin often remains very fragile and will require padding even when healing has taken place. This is very important in the young baby as kicking the feet together can denude the skin repeatedly.

Handling

The baby can be nursed on a small soft mattress that will be provided by an EB nurse. To lift the baby from the mattress, apply a ‘roll and lift’ technique to avoid damage from friction and shearing forces – roll the baby onto their side, place one hand behind their head, the other under the bottom, allow them to roll back onto the parent’s flat hands and lift. As the parent become more confident, they may not need the mattress.

Blisters

Blisters must be lanced with a hypodermic needle to prevent them from spreading. The roof should be left on the blister.

Nappy area care

Cleaning with water can sting the blisters and sores and therefore we recommend cleansing with 50/50 ointment or Emollin® emollient spray. Blisters should be lanced as above. A layer of barrier cream such as Proshield® Plus, reapplied at each nappy change, should protect blistered and vulnerable areas. Open wounds are covered with the dressing Intrasite® Conformable. The nappy is lined with a soft material such as Conti® SuperSoft (available on prescription) to cover the edges of the nappy to prevent friction.

Bathing

If there is extensive skin loss at birth, we recommend delaying bathing until healing has taken place. This is because bathing can be a painful process and it is difficult to protect the baby from further skin damage when all the dressings are removed at once. Many babies enjoy bathing once the initial wounds are healed. Give prescribed painkillers before bathing and have the replacement dressings pre-cut ready to put in place. A mild antiseptic such as Octenisan® as prescribed by the EB team can be added to the water instead of commercial baby products. If a parent finds it difficult to hold the baby in the bath, then they can use a towelling baby seat rather than a plastic one. If there are a lot of dressings it may be easier to bathe the baby with the dressings on and change them after bathing. Pat skin dry with a soft towel rather than rubbing.

Clothing

Initially, a front fastening baby grow is ideal but unless the seams are flat it will need to be worn inside out to prevent the seams from rubbing and causing blisters. Care must be taken to ensure the fasteners do not rub. Older children can wear ordinary clothes if they are easy to put on and take off. Choose clothes which do not have to go over the head and without prominent seams. A range of garments is available on prescription via the GP to help keep dressings in place. Skinnies® garments and Skinnies® WEB garments are particularly useful. Other garments include the Tubifast® range.

Wound care

Open wounds must be dressed to encourage healing and prevent adherence to clothing. Suitable dressings include Urgotul® (Urgo), PolyMem® (Ferris) and a range of soft silicone dressings, which all provide protection for the skin and encourage wound healing. Wound management is complex but the EB team will help parents to find the correct dressing regimen for the child. As the barrier function of the skin is reduced, some wounds become infected. These can be treated with creams and ointments or specialised dressings. If the child is unwell with fever, parents should contact their GP as treatment with antibiotics may be needed. Parents should ask the GP to take a wound swab before prescribing antibiotics. If products accidentally adhere to the skin, or dressings become stuck, a Silicone Medical Adhesive Remover, such as Appeel® (CliniMed), will remove the product painlessly and without causing further damage. 

Nutrition

Babies may be reluctant to feed due to soreness from blisters in the mouth. A Haberman® (Special Needs) feeder is often helpful. Application of teething gels to the teat or directly to the mouth prior to feeding or a preparation such as Gelclair® further reduces pain. Breastfeeding is often possible although the face may need to be protected with a layer of emollient to reduce friction from rooting.

Due to increased nutritional needs from wound healing, additional protein and calories may be prescribed under the guidance of a specialist dietitian.

If there has been a lot of blistering in the lining of the oesophagus this can heal leaving a scar which may cause narrowed areas called strictures that make swallowing more difficult. These can be stretched by a procedure called an oesophageal dilatation (OD) that is performed by a specialist team under general anaesthetic. This is generally very effective although may need to be repeated regularly. If a child is not able to take enough nutrients to grow then feeding can be supplemented by inserting a gastrostomy tube into the stomach that enables additional feed to be given. Information about both these options is available on the GOSH website. Constipation is a common problem with all types of EB, often resulting from blistering and soreness around the bottom.

Constipation may be further compounded by side effects from pain medicines. Treatment with laxatives may be needed.

Pain management

Blisters and wounds can be painful but children’s need for pain relieving medicines varies greatly. Pain management is complex and needs constant readjustment. The EB team will help with this and will refer to a specialist paediatric pain team if extra assistance is needed.

Teeth

The teeth develop normally but scarring inside the mouth can lead to overcrowding of the teeth that in combination with fragile gums can make tooth cleaning difficult and restorative treatment and extractions are often necessary. Brushing with a soft toothbrush should be encouraged and fluoride supplements may be prescribed. Regular assessment by a specialist dentist experienced in EB care will ensure optimal preventative care and treatment is given.

Eyes

Blistering of the surface of the eye can be a problem. Rubbing the eyes can trigger this painful condition, but blisters often result from dry eyes caused by a reduced tear film. Eye drops and ointments prescribed by an ophthalmologist experienced in the care of children with EB can help keep the eyes moist and reduce the incidence of blistering. Once an abrasion has occurred, the lubricants should be replaced with antibiotic eye drops. Abrasions in the eye are painful and pain-relieving medicines should be given while waiting for assessment by the ophthalmologist. The child may prefer to keep their eyes closed and avoid bright light while the abrasion is healing. Never allow the eye to be forced open in order to examine it or further damage may result.

Hands

In all forms of RDEB, the hands become scarred. In those with RDEB-SG, the hands have a tendency to contract leading to the fingers becoming webbed and forced into a fisting position. This can be delayed by splinting the hands under the guidance of an EB occupational therapist. In many children, webbing can be avoided by bandaging through the web spaces in between the fingers. There is a DEBRA booklet available that explains care of the hands in more detail.

Nails

Finger and toenails may be missing from birth or may be lost over the first few months of life. Sometimes the nail will re-grow or it may be lost permanently. Those with mild forms of dystrophic epidermolysis bullosa may not lose the nails, but thickening and distortion can result if the nail suffers trauma.

Itch

While those with RDEB pruriginosa experience itching most of all, this is a problem that affects all types of DEB. Inevitably, itching leads to scratching which damages the fragile skin. Wounds that are almost healed are particularly itchy. Although it is difficult to control itch the following suggestions may be helpful: try to keep the environmental temperature cool, using fans (directed away from the face to avoid drying the eyes or use a non-buffering Dyson® fan) or an air conditioning unit. Dry skin tends to be itchier, so apply a bland moisturiser as suggested by theEB specialist.

Later complications

There is an increased risk of developing a type of cancer called squamous cell carcinoma in older children and adults. It is important that all the skin is examined regularly by the EB specialist to detect these early so treatment can be offered.

Compiled by: 
GOSH Epidermolysis Bullosa department and DEBRA in collaboration with the Child and family information group at GOSH
Last review date: 
February 2017
Ref: 
2016F1948

Disclaimer

Please note this is a generic GOSH information sheet so should not be used for the diagnosis or treatment of any medical condition. If you have specific questions about how this relates to your child, please ask your doctor.