Laryngo-onycho–cutaneous (LOC) syndrome

LOC syndrome is a rare type of epidermolysis bullosa (EB). EB is the name for a group of rare inherited skin disorders that cause the skin to become very fragile.

LOC syndrome can cause abnormalities of the voicebox (laryngo-), nails (onycho-), and skin (cutaneous).

Many of the condition's signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury.

LOC syndrome is a genetic condition. It is caused by a faulty gene (gene mutation) that causes skin tissue to grow in abnormal ways and makes the skin fragile.

A child with LOC syndrome might have inherited the faulty gene from a parent who also has EB. Or they might have inherited the faulty gene from both parents who are just ‘carriers’ but don’t have EB themselves.

The change to the gene can also happen by chance when neither parent are carriers.

LOC syndrome is diagnosed by taking a tiny sample of skin (a skin biopsy) and examining it under a microscope. Blood samples are also taken from the child and parents to look for the specific gene changes.

• Fragile skin can remain a lifelong problem leading to continual blistering and wounds.
• Wounds can become scarred or chronic (non-healing).
• Teeth can be sensitive and damaged.
• Children can have extra nutritional needs.
• Fingernails may fall off and leave a wound or a painful scar behind.
• Inflammation and build-up of too much granulation tissue in the airway can cause breathing difficulties. Some children may need to have a tube inserted into their windpipe to help them breathe more easily (a tracheostomy). It is rare for this tube to be able to be removed in children with LOC, and some people may need a tracheostomy for most of their life.
• In very severe cases, repeated damage and scarring to the eyes can cause blindness.

LOC syndrome can be a serious and life-limiting illness. The EB team are here to support you and your child.

There's currently no cure for LOC syndrome. Treatment aims to relieve symptoms and prevent complications developing, such as infection.

This will vary and depend on whether you and your partner are carriers of the faulty gene.

In some cases, it's possible to test an unborn baby for EB between the 11th- 13th week of pregnancy. In IVF it is also sometimes possible to test embryos before they are implanted.

Tests may be offered if you or your partner are known to be a carrier of the faulty gene associated with EB and there’s a risk of having a child with a severe type of EB.

It’s important to pop blisters with a sterile hypodermic needle (a very thin needle) to stop them from enlarging and becoming painful or infected. If blisters are left, they can sometimes stop babies from crawling or walking. After you’ve popped the blister leave the top of the blister on.

Apply dressings to open wounds to encourage healing and to prevent wounds from sticking to clothing. Your child’s EB nurse can recommend suitable dressings and show you how to apply them to your child’s wounds. Some dressings, although described as ‘non-adherent’ and suitable for those with other types of EB, may cause not be suitable for children with LOC.

You can use a non-sting medical adhesive remover such as Appeel® (CliniMed) if dressings have become stuck to the skin. This will help remove the dressing without causing pain or further damage.

If your child has a tracheostomy, use a protective foam dressing underneath such as Allevyn, or Mepilex Transfer to prevent skin damage. Be careful that the tube under the chin and the tapes at the back of the neck don’t rub.

Wounds can sometimes look deep red, lumpy and bleed easily. This is called over-granulation tissue, and is very common in babies and children with LOC. The EB team can provide a steroid cream to help reduce this.

You can treat infected wounds with creams and ointments or specialised dressings. However, if your child has a fever you should contact your child’s GP- they may need antibiotics to help treat the infection. Please ask the GP to take a wound swab before prescribing antibiotics.

If you are concerned about your child’s wounds, please contact the EB nursing team to discuss the best treatment options.

Blisters and wounds can be painful, and each child has different pain management needs.

Please speak with your child’s EB team about how to manage your child’s pain. As well as giving you advice they can refer your child to a specialist pain team if needed.

If your baby has a lot of very fragile skin, you can nurse them on a small soft pillow/ mattress. Your EB nurse can provide this.

To lift your baby from the mattress, apply a ‘roll and lift’ technique:

1. Roll your baby onto their side.
2. Place one hand behind their head and one hand under their bottom.
3. Allow them to roll back onto your flat hands.
4. Lift.

As you become confident in lifting your baby you may find you don’t need the pillow/ mattress.

To reduce the risk of skin blistering or tearing we also recommend:

• Try to avoid picking babies and toddlers up by their armpits.
• Pad areas of the body prone to knocks and friction with dressings when you baby becomes more mobile.
• Apply dressing to open wounds to help reduce pain and potential infection.

If your child has a lot of damaged skin, we recommend delaying bathing until healing has taken place. This is because bathing can be painful and it’s difficult to protect against further skin damage when all the dressings are removed at once.

Instead, use Octenisan Wash Mitts to cleanse when the skin is sore. Use Octenilin irrigation fluid to help clean the skin. Your EB nurse can also recommend dressings or creams that can help cleanse or keep bacteria off the skin until a bath is possible.

Tips for bathing:

• Pre-cut replacement dressings before the bath so they’re ready to put on.
• If needed, give prescribed painkillers before bathing.
• Add a mild antiseptic such as Octenisan® or Dermol 500 to the water instead of commercial baby products. Your EB team can prescribe this.
• Use a towelling baby seat rather than a plastic one if it’s difficult to hold your baby in the bath.
• If your baby has a lot of dressings, sometimes it’s easier to bathe them with their dressings on, then change them after the bath.
• Pat skin dry with a soft towel rather than rubbing.

Initially dress your baby in a soft cotton baby grow that fastens at the front. They can wear this inside out to stop the seams from rubbing and causing blisters. Watch out for fasteners that may rub.

Older children can wear ordinary clothes if they’re easy to put on and take off and don’t rub. Some children prefer clothes which don’t have to go over their head and don’t have prominent seams.

Your child’s GP can also prescribe specialist clothes such as Skinnies® or Tubifast® that can help keep dressings in place.

• Don’t use wipes if the nappy area is red or broken down.
• Cleanse with 50/50 ointment or Emollin® emollient spray. Water can sting blisters and sores.
• Pop blisters (as above).
• Apply a layer of barrier cream such as Proshield® Plus or Bepanthen, to any blistered areas or to any areas that the nappy may rub.
• Cover any open wounds with a dressing such as Intrasite® Conformable. You may also need to line the edges of the nappy with a soft material such as Conti® SuperSoft (available on prescription) to prevent rubbing.

Blisters in the mouth can make feeding sore and difficult.

Tips for breastfeeding:

• Protect your baby’s face with a layer of emollient to reduce any friction from feeding.

Tips for bottle feeding:

• A special teat like a Madela special needs feeder can be helpful, as it has a longer, slimmer teat made of ultra-soft silicone.
• You can apply a teething gel to the bottle teat or directly to the mouth before feeding to help ease pain. Gelclair® (a specialist gel) can also be used around or inside the mouth to help reduces pain.

Tips for eating:

Your child’s EB dietician can advise on appropriate soft foods and supplements to make sure your child can meet their nutritional needs. They can also advise on how many calories your child needs to support their growth and health.

Some children may need to have regular blood tests to make sure they aren’t lacking in any vitamins or iron.

Constipation is a common problem with all types of EB. Blistering and soreness around the bottom can make it uncomfortable for your child to poo, and pain medicines and iron supplements can also cause constipation.

If you child is constipated please speak with your child’s EB team who will be able to advise on medicine to help them poo, or make pooing more comfortable.

Children with LOC often have poorly developed tooth enamel ((the protective outer covering of the teeth). This can lead to the teeth looking brown and patchy or pitted and can cause plaque and tartar build up which can lead to gum inflammation. It can also cause an increase in sensitivity to hot and cold food and drinks.

To help we suggest:

• Brush teeth with a soft toothbrush.
• Try to avoid very hot or very cold food and drinks.
• Have regular check-ups with the EB dentist. They may also prescribe fluoride supplements.

Dry eyes caused by a reduced tear film can sometimes cause blistering on the surface of the eyes which can be painful.

An ophthalmologist (eye specialist) can prescribe eye drops or ointment to help keep the eyes moist and reduce the chance of blistering.

If the eye becomes scratched or blistered:

• Make an appoitnment to see the ophthalmologist.
• Use antibiotic eye drops rather than the eye drops or ointment.
• Give pain-relief if needed.
• Your child may find it more comfortable to keep their eye closed and avoid bright lights whilst the eye is healing.

If you are at all concerned about any skin changes, please contact your EB team as soon as possible.

• Message us on MYGOSH
• Call us on 0207 405 9200 Ext 5053
• Email us on gos-tr.ebnurses@nhs.net

DEBRA is the national charity that supports individuals and families affected by EB.

They provide information, practical help and professional advice, and fund research into the condition. To find out more please their website: Debra website.