What is EI in more detail?

EI stands for Epidermolytic Ichthyosis, it’s had many different names over the years (Bullous congenital ichthyosiform erythroderma BCIE, Keratinopathic ichthyosis KPI, Epidermolytic hyperkeratosis EHK), but the most frequently seen these days are EI or EHK. EI comes from a pathogenic genetic variant which may be inherited or can occur spontaneously during embryonic development on one of the keratin (KRT) genes. The most commonly occurring form of EI comes from a variant on KRT10, followed by KRT1, then KRT2 and KRT9.

When these faulty genes produce proteins which are the basic building blocks of our cells, they don’t work as they should, and this means that the top layer of the skin, the epidermis, can’t function correctly. The epidermis in EI skin is fragile, and with minor bumps and scrapes, from friction, or too much heat, the epidermis will become red and inflamed, it fills with fluid, and ultimately it detaches to reveal a raw wound. So people with EI get blisters, and these can be really little and acutely painful, or they can be enormous and cover a whole limb. This can happen from something as simple as a seam rubbing, or a baby being cuddled on a hot day.

As a result of this fragility, it seems as though the body tries to protect itself from trauma somehow, and so it goes into overdrive and produces loads and loads of faulty skin cells. So on the joints and flexures everywhere on the body, people with EI have too much skin, and it forms thick ridges, and gets darker than it should. This overproduction of skin cells is medically referred to as ‘Hyperkeratosis’.

The very outer layer of the skin, where the scale and ridging forms is called the ‘Stratum corneum’. With healthy skin, when the cells reach the surface of the skin during the normal skin cycle, the stratum corneum will shed when cells have served their purpose. This shedding process is invisible to the naked eye. In EI skin, the stratum corneum malfunctions, and fails to detach and shed the old skin as it should. This also adds to the thickness of skin seen in EI. To try to combat this, people with EI need to soak their skin in the bath (with baking soda to help soften the scale) for long periods of time each day to encourage the stratum corneum to shed. Sometimes patches of the thick skin will fall off, this is known as ‘Mauserung phenomenon’, and with this you end up with a patchwork of thick skin and raw skin, and it’s just really uncomfortable and itchy. The thick skin doesn’t have the flexibility or elasticity of healthy skin, so if you stretch or move in a particular way, the skin will tear and bleed.

In addition to the fragility and lack of elasticity, the thick skin or stratum corneum tends to harbour bacteria and fungus, and so we have to try to manage that with special medicated baths (using diluted bleach, or other medicated additives) and trying to scrub the old skin off. This old skin can become smelly or ‘Malodorous’, and can also get infected really easily. So, if you have EI, you’re always stuck between trying to keep the thick skin under control, and trying to manage raw wounds from the thin skin, all the while you’re trying to prevent infections. Skin infections can accelerate really quickly, so if topical local treatments (Antibiotic ointments) and medicated baths don’t work within a day or two, it’s necessary to visit the Doctor or hospital for a skin swab and oral antibiotics. A swab is always essential to help inform which antibiotic will be most successful. Infections and recurrent infections are a problem with EI skin, therefore it is always better to ensure via a swab that the antibiotics given are appropriate otherwise there is a risk of antibiotic-resistance developing.

The need for skin care for EI is rather relentless, the skin grows much faster than it should, somewhere between 3 and 10 x faster than healthy skin. So, you can soak in the bath for an hour, scrub at your skin for another hour, then treat wounds, and cover yourself in creams to feel more comfortable, but then you wake up the next day and have to do it all over again. Every single day. It never stops. It doesn’t matter what else is happening, if you’re sick, if you’re having surgery, if it’s your birthday, the skin never stops. And if you stop the routine, then you’re at greater risk of poor mobility, pain, discomfort, wounds and infections.

Everyone has many different types of keratin in their bodies and in their skin, but different areas of the body contain more of a particular type of keratin. For example, KRT1 and KRT9 are often found extensively on the palms of the hands and the soles of the feet, so people who are affected with KRT1 or KRT9 EI variants tend to have thick skin on their palms and soles. This thickening of the palms and soles has a specific name, ‘Plantar-palmer keratoderma’ and this is usually referred to by the acronym ‘PPK’. Those affected with KRT2 or KRT10 EI variants typically do not have PPK, however, there are some rare reported cases. In addition, KRT2 and KRT10 are rarely found on the face, so often those who are affected with KRT2 or KRT10 EI have skin which appears mostly unaffected by their EI on their faces, whereas those with KRT1 are affected by their EI on the face. KRT9 only affects the palms and soles, and no other area of skin on the body is affected.

The thickness of the skin, and the fact that the skin barrier is impaired by the faulty keratin, results in ‘Temperature disregulation’ affecting those with EI. In practice, this means that people with EI are unable to sweat properly, but that they also get too cold more quickly. In daily life this means that those with EI must adapt their lifestyle to reduce the risk of having a heatstroke episode, must take precautions to reduce the risk of excessive blistering being caused by sweat trapped under the thick skin, and that parents of young children look for cues that their child with EI is too cold after just 10 minutes in the pool (Shivering and a blue tinge to the lips are key indicators here).

There’s also the psychological and social impact of having EI. Everyone tries so unbelievably hard to look ‘Normal’ because we are at risk of being vilified and bullied for looking different. This is one of the more challenging aspects of living with EI. We live in a world that doesn’t accept differences easily. So, when you are affected with a visible difference, it is often part of life to experience many different emotions as a result of interactions with friends, family, and strangers and how they all react to seeing a visible difference. Most in the EI community try to adopt an educational approach, whereby when adults or children visibly stare or react to seeing a visible difference, we try to swallow the anger or anxiety and say hello and try to educate whoever it is on the fact that EI is a skin condition from birth, it requires a lot of care, but it isn’t contagious.

Many strangers want to talk, and will often offer well-meant advice using examples drawn from their own life-experiences, but this can feel quite challenging no matter how good the intention might be. Personally, I have experienced many of these instances, where strangers or acquaintances have made suggestions. People have suggested anything from changes in diet, drinking rooibos tea, using aloe vera, as approaches to ‘Fix’ my daughters skin. Whilst I admit that there is a part of me that breathes a huge internal sigh of frustration at some of these interactions, I know that there is a kind intention behind these suggestions, and sometimes an element of truth. Whilst none of these things will ‘Fix’ my daughter’s genetic skin mutation, diet does have a role, tea might help to calm my own nerves sometimes, and aloe vera is super at drying up and disinfecting wounds.

So, whilst it can seem exhausting to feel the need to educate the world about visible differences, I always choose to follow positivity, because I fundamentally believe that people are kind, but often they are just misguided. The more I choose to educate, the richer our lives have become. Sometimes you just need to speak to one new person, and your life will change forever for the better. So, I choose to talk and educate, and embrace the good when I can. My daughter with EI is also a child who is full of spirit and light, and anyone who meets her cannot help but smile. So my ethos has always been “If someone stares at you, smile back and say hello!” So far, this has worked in our favour, and we have met some wonderful people.

With good care, many adaptations, and a LOT of very careful planning, life with EI can be full, and good, and joyful. However, I would still gladly give my daughter more time for play and less time for care, if a cure became a reality. I hope to give the EI community this choice through the EI cure project.