Biopsy
Why do I need it?
Small skin biopsies are a frequent procedure. There are a number of distinct reasons for this.
- To help with diagnosis: if we are unsure which type of EB you have and blood tests for genetic testing have not provided the answer, sending small samples of your skin to the lab can be helpful.
- To look for skin cancer: if we are concerned about an area of skin which is behaving in an unusual way then it is important to test a sample.
What is involved/How does it happen?
Skin biopsies are performed under a local anaesthetic which means that the area of skin is injected with anaesthetic to make it numb (a bit like the dentist would use).
The injection itself causes stinging and discomfort which lasts less than one minute, and then no other pain should be felt. A small circular blade is used to take a sample (called a punch biopsy).
Sometimes stitches are used to close the wound but are not usually needed. A dressing is applied, and the wound usually heals within a few weeks.
Will it help?
Yes – it will help with diagnosis. If you feel concerned about the procedure itself, please talk to the EB team about this.
Pictures of the room it may be done it, pics of someone having it done, or video of someone talking about the procedure
DEXA scan
Why do I need it?
Some patients with EB, especially those with recessive dystrophic or junctional EB, are at risk of osteoporosis which is thinning of the bones. This is important as it can increase the risk of bone fractures (broken bones). A DEXA scan looks at the bones to check for any thinning.
What is involved/How does it happen?
The scan is quick and painless. It takes place in the x-ray department and usually you lie on an x-ray table.
Scans are taken of the spine and hip area.
Will it help?
It is important to know whether you have thinning of the bones as there are treatments that can help to improve this. This would then hopefully reduce the risk of breaking a bone in future.
Pictures of the room it may be done it, pics of someone having it done, or video of someone talking about the procedure
Echo
Why do I need it?
Some patients with EB, especially those with recessive dystrophic or junctional EB are at risk of changes to the heart muscle called cardiomyopathy. The Echo scan is to look for any evidence of these changes.
What is involved?
Some jelly is placed on the skin on the chest and a probe is applied to that area so that the person performing the scan can look at the heart on their monitor. It requires you to remove top items of clothing and, if possible, dressings that are over the area. If you have a painful or infected active wound on the chest, it is better to wait until it is healed or more settled.
Will it help?
It is important to know whether there are any problems with the function and structure of the heart early before they cause any problems so that you can be referred to the specialists.
Blood tests
Why do I need it?
There are lots of elements of a blood test which are important to monitor in our EB patients. For example:
- iron levels
- when these are low, patients often become anaemic, feel tired and notice that their wound healing is poor. Low iron levels can also increase swallowing problems and cause itching
- vitamin D levels
- when these are low, patients can notice muscle/joint aches and pains, and hair loss. Vitamin D is also important in the function of the immune system and in keeping the bones healthy.
- full blood count
- this can show whether you are anaemic or whether your white blood cells are currently fighting an infection
- liver and kidney function are both particularly important to monitor and the kidney function can sometimes be affected by EB
- genetic testing is usually done by a blood test now which is important for confirming the EB diagnosis
Other tests are often considered depending on current medical issues.
What is involved?
Blood is taken either in the dermatology department by one of the EB nurses or in the dedicated phlebotomy department downstairs.
Will it help?
Yes, having blood tests allows us to monitor lots of different and important elements of health.
Iron infusions
Why do I need it?
Not all patients will require an iron infusion but for those in whom the iron levels are persistently low, it can be a really effective way to boost the iron levels. This should help with symptoms such as tiredness, shortness of breath, poor wound healing, and itch.
What is involved?
Iron infusions are given through a cannula (often referred to as a 'drip'). This requires a procedure with a needle to insert the cannula usually into the elbow crease or hand.
Once in place, the iron infusion is given over 30 - 60 minutes and then the patient can go home. This is done in a room within the dermatology department and is provided by the EB specialist nurses who will also stay with the patient throughout.
Usually, two treatments are needed one week apart.
Last reviewed: 29 September 2025