Epidermolytic Ichthyosis

What Is Epidermolytic Ichthyosis?

Longterm Course

Key Findings

• Skin
  Generalized flat, polygonal, dark, often large (>1cm) scales; palms and soles usually thickened; variable redness under scales; ectropion usually present; may have clinical overlap with ARCI-CIE type due to shared gene mutations.
• Hair
  No shaft abnormalities; alopecia has been reported in some cases.
• Nail
  Usually normal; may become dystrophic.

Associated Findings

• Usually none

Clinical Resources

• Clinicians seeking to confirm a diagnosis should visit the Edvyce portal to submit a case to experts in ichthyosis.
• Learn more about FIRST’s Resources for individuals and families affected by Ichthyosis?
• Information about current clinical trials and research studies can be found here.

Community Story

I have learned to never let my skin define me

Alyssa L.
McAlester, OK

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What Causes Epidermolytic Ichthyosis?

How Common is it?

• Bullous congenital ichthyosiform erythroderma (BCIE)
• Bullous erythroderma ichthyosiformis congenita of Brocq
• Bullous ichthyosiform erythroderma (BIE)
• Bullous ichthyosiform erythroderma congenita
• Congenital bullous ichthyosiform erythroderma
• Epidermolytic hyperkeratosis (EHK)

What are the Signs & Symptoms?

• Lose too much water and other fluids that the body needs to work normally
• Have too much or too little of substances like sodium that the body needs
• Easily get too cold or too warm
• Be prone to infections in the skin or elsewhere in the body

Older Children and Adults with EI May Have

• Dry eyes
• Difficulty sweating because thick layers of skin clog the sweat glands
• Fragile skin that cracks easily and frequently becomes infected
• Skin wounds caused by scratching to try to relieve itchiness
• Issues with hearing caused by buildup of skin scales in the ears
• Thin or fragile hair due to buildup of skin scales that block the hair follicles, openings on the surface of the scalp that hair grows through
• Thickened skin on the palms of the hands and soles of the feet

What to Expect

• Sometimes the skin can get very dry, crack, and hurt a lot.
• Developing and sticking with a daily routine aimed at keeping the skin moist is important. Doing so helps to remove dead and thickened areas of skin and to control skin itching and cracking. This routine usually includes taking frequent baths and then applying moisturizers or other skin protectants right away to lock moisture into the skin. Tools like pumice stone and skin products that contain lanolin, urea, propylene glycol, or alpha hydroxy acids may be helpful.
• It can take time for a new skin cream or other treatment to work. You may need to use a skin care product for at least two or three weeks before deciding whether it’s effective.  
• Every person with EI is different. Even when people share the same disease subtype or the same genetic mutation – or are members of the same family – each individual may have different symptoms and will need to find their own path to managing the condition in the way that works best for them.
• People may offer advice about skin care products and coping strategies that they have found helpful. Keep in mind that what has worked for someone else may or may not work for you or your child. You may need to try a variety of skin care products and approaches before finding the one that has the best results for you or your child.
• Bathing with an antiseptic skin cleanser can kill bacteria that get trapped in the cracks or creases in thick skin scales. Adding a couple of teaspoons of chlorine bleach to each gallon of bath water may also help.
• Young children with EI may need supplemental feedings to ensure that they consume enough calories to support their growth. It can be helpful to conosult a nutritionist who can help you develop a diet plan that meets your child’s developmental needs.
• Children with EI often fail early hearing tests. They should see an ear, nose, and throat specialist regularly to have skin buildup cleared from their ears.
• EI may affect more than your skin. Thick fingers and stiff knuckles can make it difficult to grip things with your hands, while stiff knees and ankles can limit walking. Living with a condition that is often very noticeable to other people can be upsetting, so be sure you are minding your mental health too.
• It can be difficult to explain EI to other people or to find the best skin care regimen to follow. Talking and sharing experiences with other people who have EI or other forms of ichthyosis can help you feel less alone.

What is the Treatment?

The Main Treatments for EI include

• Bathing or showering frequently using a mild, soap-free cleanser to soften the skin and remove layers of thickened skin
• Rubbing the skin lightly with a loofah, rough-textured sponge, or pumice stone to help remove thickened skin
• Applying moisturizers to the skin after bathing or showering and throughout the day to reduce skin dryness; be careful not to use perfumed lotions

Things to Keep in Mind

• EI is a chronic condition that needs lifelong, daily, meticulous care.
• EI is not contagious. No one can catch it by touching or being close to you or to your child with EI.
  • Because EI is rare, many doctors – including dermatologists (specialists in treating skin conditions) –have never seen a patient with any type of ichthyosis and know little about the condition.
  • Both cold and hot weather present challenges for people with EI. If you live in a cold or hot climate, or plan to travel to areas that have extreme temperatures, talk with your care team and make a plan.

• People (some well meaning, others less so) may stare at you, or at your child with EI, and ask questions like “What’s wrong with your skin/your child?” or “Does it hurt?”. Other children may tease or bully your child with EI because of their appearance.
  • Explaining to people that you, or your child who has EI, were born with the condition may help them understand that you’re not sick and that you live with the condition every day.
  • When you have EI, your skin may look different from other people’s, but you can still do most things that other people do.
  • You are not responsible for other people’s reactions to your or your child’s appearance. Your skin condition does not define who you are.

• Do your best to treat your child with EI in the same way as unaffected children in the family, while allowing for the fact that your child with EI needs a special skin care regimen and must take certain precautions (e.g., in hot or cold weather).
  • For example, hold them to similar expectations and encourage them to follow their dreams and ambitions just as you do your other children. Often, kids learn that they can be a teacher, for example, but that perhaps a job in which they would be out in the blazing sun and heat all day wouldn’t be a good choice for them.
  • Reinforce in your child with EI that their skin condition does not define who they are or what they can achieve in their lives. 

Questions to Ask

• How is EI different from other types of ichthyosis?
• Can ichthyosis spread?
• What can irritate or make the condition worse?
• How can I best prevent infection?
• Does drinking lots of water and getting good nutrition help?
• What are the best treatments or ways to improve the skin? Are certain skin lotions or creams better than others?
• Can physical therapy help with the tightness and difficulty grasping things?
• Can I exercise and what are the best activities to do? What about swimming?
• Are there activities I should avoid?
• Should I keep a journal to track my skin care? What characteristics about my skin, eyes, and/or hair growth should I keep track of?
• When should I call if my skin is looking or feeling worse?
• Is there an ichthyosis clinic that I can be referred to?
• How do I cope with the emotional side of having ichthyosis and with what my skin looks like?
• Are there support groups I can join?
• How can I best protect my child’s skin, but also make sure they don’t feel overwhelmed by the condition or left out by their peers?

• To learn more about ichthyosis research or find out how you can partner with FIRST members on a research study, visit the current clinical trials and research studies section on FIRST’s website. 
• Visit EI Cure Project for additional information on epidermolytic ichthyosis
• Visit EI Cure Project for additional information on the care of newborns and infants with epidermolytic ichthyosis

Pertinent Research

Sources

• Craiglow BG. Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma. Updated 2021 Oct 8. https://emedicine.medscape.com/article/1112403
• Craiglow BG. Ichthyosis in the Newborn. Semin Perinatol. 2013 Feb; 37(1): 26–31.
  doi: 10.1053/j.semperi.2012.11.001
• Dahl AA. Ichthyosis Treatment & Management. 2018 Aug 28. https://emedicine.medscape.com/article/1198130- treatment#d2
• FIRST. A Handbook for Parents & Caregivers of Children with Ichthyosis.   
• HowStuffWorks.com. How Many Skin Cells Do We Shed Every Day? https://health.howstuffworks.com/skin-care/information/anatomy/shed-skin-cells.htm
• MedlinePlus Genetics. Epidermolytic hyperkeratosis. https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/
• NIAMS/NIH. Ichthyosis: Diagnosis, Treatment, and Steps to Take. https://www.niams.nih.gov/health-topics/ichthyosis/diagnosis-treatment-and-steps-to-take