Epidermolysis bullosa
This is not one illness but a group of inherited conditions with a single thing in common: the layers of the skin hold on to one another far too weakly.
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Medicines commonly prescribed for Epidermolysis bullosa
For informational purposes only. Always consult a doctor before using any medicine.
Dosage form: TABLET, 650 mg paracetamolActive substance: paracetamolManufacturer: Laboratorios Normon S.A.Prescription not requiredDosage form: ORALLY DISINTEGRATING TABLET/LIOTAB, 325 mgActive substance: paracetamolManufacturer: Laboratorios Ern S.A.Prescription not requiredDosage form: TABLET, Paracetamol 650 mgActive substance: paracetamolManufacturer: Towa Pharmaceutical S.A.Prescription required
This is not one illness but a group of inherited conditions with a single thing in common: the layers of the skin hold on to one another far too weakly. What an ordinary person never even notices — the elastic of a sock, a plaster pulled off, a baby lifted under the arms — here slides the layers apart and leaves a blister. Children born with skin like this are often called butterfly children.
Why the skin comes apart
Skin is built like a glued sheet: the epidermis on top, the dermis beneath, and between them an extremely thin basement membrane. Several proteins hold the arrangement together — a scaffold inside the epidermal cells themselves, rivets joining those cells to the membrane, and anchoring filaments that run from the membrane down into the dermis. If the gene for any one of them is altered, the protein is either missing or poorly made. The grip weakens, the slightest shearing movement slides the layers apart, and the gap that opens fills with fluid. That is the blister.
The gene arrives by one of three routes: from a parent who has the condition as well; as one copy from each parent, both of them well and with no idea that they carry the fault; or as a mutation appearing for the first time in the child. Parents should hold on to that last point in particular — nothing done during the pregnancy, no medicine and no infection has anything to do with it.
Four forms and how they differ
The form is set by the depth at which the skin splits, and that depth decides both how severe things are and whether scarring is left behind.
- Simplex — the split runs within the epidermis itself. This is the commonest form and, on average, the mildest. Blisters appear wherever skin rubs: palms and soles after long walking or training. Heat makes it worse, because sweat increases friction. They usually heal without scars, though in adults the skin of the palms and soles thickens over the years. Severe variants with widespread blistering in infancy also exist.
- Junctional — the tear runs along the membrane itself. A rare form, ranging from moderate to extremely severe. In the severe variant, wide areas that will not close are visible within the first days, along with overgrowths of fleshy tissue around the mouth and nose, faulty tooth enamel, a hoarse voice and difficulty breathing because the larynx is involved; the outlook for these babies is poor. In the moderate variant the picture is dominated by scarring hair loss, nail loss and fragile teeth.
- Dystrophic — the split runs below the membrane, at the level of the anchoring filaments. The dominant variant puts blisters on knees, elbows, hands and feet; they heal with scars and small white spots, and nails become deformed or disappear altogether — sometimes the nails are the only trace of the condition across a whole lifetime. The recessive variant is the most severe of all: extensive wounds, fingers fused by scar tissue into a mitten shape, narrowing of the oesophagus, anaemia and poor growth.
- Kindler syndrome — the rarest of the four. Blistering in infancy, and later sensitivity to sunlight, mottled marbled skin with visible small vessels, and severe inflammation of the gums.
Each form has further variants inside it, so the sentence "the child has epidermolysis bullosa" says almost nothing about the outlook. The precise diagnosis, with the name of the gene, does.
The first signs and what follows
Most often the condition announces itself immediately after birth: blisters on the heels, at the back of the head, wherever the baby was held, under the edge of a nappy or a monitoring sticker. Sometimes a baby is born with an area where skin is simply absent, usually on the lower leg. A hoarse or weak cry is a warning sign, because it means there are blisters in the larynx too. Mild variants, by contrast, may go unnoticed until adolescence, when painful blisters suddenly appear on the feet in summer after sport.
It does not stop at the skin, and knowing that in advance is better than meeting each problem in turn. Erosions in the mouth make feeding an ordeal; over time the mouth may become smaller and the tongue less mobile. Enamel forms badly and teeth break down quickly. Scarring narrows the oesophagus: food sticks, swallowing becomes slow and painful, weight falls away. Constipation with fissures turns going to the toilet into an ordeal, so the child starts holding on and makes matters worse. The eyes suffer erosions of the cornea, which cause sharp pain and an inability to tolerate light. Chronic wounds drain protein and iron year after year, and from that come anaemia, weakness, poor growth and late puberty.
How the diagnosis is confirmed
The form cannot be told by eye: in the first weeks babies with different variants look much alike. So a biopsy is taken — a small piece of skin from the edge of a fresh blister, deliberately raised beforehand so that a young split can be examined. In the laboratory the skin is stained with antibodies against the anchoring proteins, and this shows which one is missing and at what level the layers have parted.
Genetic testing comes next. It names the gene and the exact fault, and so answers what the biopsy leaves open: how the condition is inherited and what the risk is for any later children. Where the family fault is already known, testing during pregnancy is possible, by chorionic villus sampling from around the eleventh week or amniocentesis later on; selecting embryos during fertility treatment is another option. A conversation with a geneticist is worth far more before a pregnancy than after one, because the choices are wider and there is more time to think.
Everyday skin care
Here home care matters more than any medicine, and nearly every rule runs against ordinary household habit.
- A fresh blister is lanced with a sterile needle from the side, near the base, and the fluid is allowed to drain: one left intact spreads sideways and leaves a wound twice the size. The roof is not trimmed off — it stays put as a natural dressing and protects the floor of the wound.
- Dressings must always be non-adherent, with a silicone or ointment contact layer, and are held in place with tubular bandage, a soft stocking or a cohesive bandage.
- Ordinary sticking plaster and adhesive tape are completely off limits: taking them off takes skin with them. Any health professional about to stick on a sensor, an electrode or a wristband needs to be warned.
- A dressing that has dried on is soaked off in the bath and lifted away wet, never pulled. After bathing the skin is patted dry, not rubbed.
- Clothing should be soft and loose, ideally with the seams turned outwards and no tight elastic; shoes should have no inner seams. Heat is the enemy: the cooler things are, the fewer the blisters.
- A baby is lifted with a hand supporting the whole body, or on a soft pad, and never under the arms.
- Giving up movement is not an option. Swimming is usually well tolerated, and a physiotherapist will help with the rest. Contact sport is ruled out, but sitting at home alone does a child more harm.
For the dystrophic and junctional forms there is a gel containing birch bark extract that speeds up wound healing; it is prescribed from the first months of life onwards. The first treatments that deliver the missing gene into the skin have also arrived and are already in use, for now in specialist centres.
Infection, pain and feeding
An open wound becomes infected sooner or later. Show it to a doctor if it has stopped closing or has started to grow, if the pain and heat around it have increased, if pus, a bad smell, a hard crust or a red line running from the edge appear, and also if a temperature develops. The doctor chooses the treatment: antiseptic, topical antibiotics, antibiotics by mouth, specialised dressings. Keeping a child on continuous antibiotics "as a precaution" is not done, because that is how resistant bacteria are bred.
Learn the signs of blood poisoning separately: fast breathing, mottled or grey skin, ice-cold hands and feet, confusion or unusual drowsiness, a child who has stopped passing urine. That means calling an ambulance straight away; in Europe, the number is 112.
Pain here is not background noise but a problem in its own right, and there is nothing to be gained from enduring it. In mild forms paracetamol is enough. For dressing changes and bathing, the hardest moments of the day, the doctor prescribes something stronger in advance, opioids included; where pain is constant, drugs that act on nerve pain are added. Aspirin is not given to children and teenagers.
Healing burns through a great deal of protein and energy, so feeding counts as part of the treatment. Food should be soft and never hot, with purées thinned down; if the mouth is raw, a baby is fed with an adapted teat or a syringe. High-calorie supplements are often needed and, guided by blood tests, iron, zinc and vitamin D. Constipation is treated ahead of time with fibre and laxatives, because straining tears the skin around the anus. If a child is not gaining weight, a feeding tube through the abdominal wall is discussed.
The risk worth knowing about in advance
The hardest part of this condition concerns not the skin of the baby but the skin of the adult. In the recessive dystrophic form, squamous cell skin cancer develops in chronic wounds from adolescence and young adulthood onwards, and it behaves more aggressively than the same tumour in someone without the condition. It is the leading cause of death in adults with this form. Risk is raised in the moderate junctional variant too.
The trap is how hard it is to spot: the skin is covered in wounds anyway, and pain gives no clue because everything hurts. What has to be watched is the behaviour of a wound. Show it to a dermatologist and have it biopsied if it has failed to close for months, if it has begun to grow, if it has risen into a firm raised rim, if it bleeds easily or has crusted over unevenly. In the high-risk forms, a full skin examination by a dermatologist familiar with the condition is scheduled regularly, usually twice a year, rather than only when something is complained of.
Acquired epidermolysis bullosa
Almost the same name, a different disease. There is no faulty gene here: for reasons that remain unknown, the immune system starts producing antibodies against the very anchoring protein that is missing from birth in the inherited forms. From the outside it looks similar — skin lifts off easily, blisters settle on the hands, elbows, knees and feet, heal with scars and white spots, and the mouth, eyes and oesophagus may be involved.
The differences matter: it begins in adult life, most often after the age of forty, and it is not passed on to children. It is confirmed by a biopsy with special staining and by blood tests for the antibodies, and it is treated over a long period with drugs that damp down the excessive immune response. That is why blisters appearing for the first time in an adult are a reason to see a dermatologist rather than to blame an allergy or a rubbed patch: several different diseases hide behind that same description, and only tests tell them apart.
Online consultation
Remotely it is easy to work through everything that does not need the doctor's hands: to explain what the report says and how the diagnosed form differs from the others; to look at photographs of how a wound is changing and decide whether a face-to-face appointment is due; to choose a dressing type, plan pain relief before dressing changes, and tackle weight gain, anaemia and constipation; to draw up the questions for the geneticist. There is one further subject that tends to be forgotten — the health of the parents themselves. Exhaustion, back pain, broken sleep and burnout in the person who has been doing dressing changes for years deserve an appointment too. What an online appointment cannot replace is a biopsy of a suspicious wound and an examination of the whole skin. And with signs of blood poisoning or difficulty breathing, what is needed is not a message to the doctor but an ambulance.
This material is for information only and does not replace medical advice.
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