What Is Epidermolytic Ichthyosis

Overview

Imagine a world where your skin, the body's largest organ, becomes an unrelenting source of discomfort and self-consciousness. Epidermolytic Ichthyosis (EI) is a daily reality for those affected by this rare and often misunderstood genetic condition. Join us on a journey to unravel the mysteries of EI as we explore its causes, symptoms, and the promise of hope in the pursuit of effective treatments. 

Epidermolytic Ichthyosis (EI), also known as Epidermolytic hyperkeratosis, is a rare skin condition that affects how our skin grows and looks. Most of the time, EI is passed down from parents, and it's usually caused by changes in our genes called mutations in Keratin 1 and 10 (KRT1 and KRT10). These genes help make important proteins in our skin. Sometimes these mutations are passed down strongly, but occasionally they are passed down weakly.¹

EI becomes noticeable right at birth or shortly after. It causes redness, scaling, and severe skin blistering. While blistering decreases over time, it can still happen after skin injuries or during hot weather. The skin may itch, have an odour, and be prone to infections. Additional symptoms may include reduced sweating, nail issues, and, in severe cases, growth problems. 

Causes and genetics of epidermolytic ichthyosis

Epidermolytic ichthyosis is a health problem that runs in families because of genes that don't work as they should.

Genes are like instruction manuals in our cells. They control how our body works by making proteins and can also influence other genes. Proteins are crucial for our body's structure and function, while genes help regulate it.

Epidermolytic ichthyosis happens because of gene mutations, mostly in KRT1 and KRT10 genes. Most cases come from parents with a gene that passes the condition to their kids. In rare cases, it's caused by new gene mutations which happen randomly. Sometimes, kids of parents with skin nevi can get this condition, and it's due to changes in their genes during early development. This condition is unique because it can have these genetic changes after birth.²

Types of ichthyosis

Ichthyosis is a term used for various skin conditions known for causing noticeable dryness and thickening of the skin. Clinical subtypes are identified based on inheritance, clinical presentation, and disease characteristics. The term "Ichthyosis" originates from the Greek word for "fish" because the skin thickens and resembles fish scales.

There are about 28 recognized types of ichthyosis and related skin conditions, including true ichthyosis, epidermolytic hyperkeratosis, and ichthyosiform states, further divided into subtypes.
The most common inherited ichthyosis types include.

• Ichthyosis vulgaris - Ichthyosis vulgaris is the most common type, affecting 1 in 250 people
• Harlequin ichthyosis - Harlequin ichthyosis is rare but severe.
• Epidermolytic Ichthyosis - Epidermolytic Ichthyosis is a rare congenital condition that affects about 1 in 30,000 individuals.
• Congenital ichthyosiform erythroderma
• X-linked ichthyosis - X-linked ichthyosis primarily affects males, occurring in approximately 1 in 6,000 births
• Localised ichthyosis
• Lamellar ichthyosis - Lamellar ichthyosis is a severe form affecting 1 in 300,000 births.
  Acquired ichthyosis is like ichthyosis vulgaris and typically appears connected to lymphoma or other illnesses in adults.³

Symptoms of epidermolytic ichthyosis

Some of the Symptoms of Epidermolytic Ichthyosis include:

• EI starts with blisters in early life and can lead to widespread dry, scaly skin, often with thickened skin on the palms and soles¹
• skin cells in the upper layers clump together, creating granules and inclusions
•  Thickened, scaly skin (Cornification)
• Redness and blistering
•  Darkened patches
•  Hair loss, which can be mild⁴
• Tight skin causing pain when moving
• Skin infections
• Reduced sweating leads to overheating³
• Potential hearing or vision problems 

Diagnosis of Epidermolytic Ichthyosis

Here are some things you might be able to expect in the clinic when being tested for EI:

• Physical examination: A dermatologist examines the skin, which appears rough or cardboard-like. Skin infections are often observed, accompanied by a specific odour. Other noticeable physical symptoms include dry skin, itching, painful skin cracking, redness, reduced sweating, ectropion, and limited joint mobility³
• Histopathological Testing: Doctors diagnose Epidermolytic Ichthyosis by examining the patient and looking at tissue samples under a microscope¹
• Genetic testing – changes in specific parts of a gene can be tested to help tell how severe the sickness is and which treatment will be most effective.⁴
• Differential diagnosis - When diagnosing EI, doctors consider other conditions that might cause skin redness, blisters, or peeling in children. These conditions include other congenital ichthyoses, autoimmune blistering diseases, and various genetic skin disorders.²
• Research and emerging treatments – Different methods for checking on the foetus before it's born have been suggested, like taking samples from the placenta or the amniotic fluid or using special tests on the mother's blood. These tests are called a Foetal Skin Biopsy. 

Treatment and management of epidermolytic ichthyosis

The following steps are crucial in the management of symptoms of Epidermolytic Ichthyosis:

• Topical emollients and moisturisers: The primary treatment for EI involves applying creams and lotions to keep the skin soft and hydrated and prevent infections. These products help remove thickened skin and make it look better.²
• Gene therapy has been shown to work in making the building blocks of skin (tonofilaments) stronger in cells with KRT10 gene mutations in the treatment of skin diseases.⁵
• Genetic counselling: It's crucial to provide genetic counselling and screen parents for linear epidermal nevus (LEN). The family's history of similar conditions and the presence of blood relatives marrying are essential factors to consider when screening for gene mutations and understanding how the condition is inherited⁶
• There are also some newer techniques for treating existing EI, like Optical coherence tomography and Raman spectroscopy. You will need to speak with a skin expert about the option that is best for you.³

Coping with EI

Epidermolytic Ichthyosis can lead to noticeable changes in your appearance and sometimes causes strong body odours, which can make a person have low self-esteem and struggle socially. 

There is no complete cure for EI, and it is a chronic disease. However, there are treatment options available. It is imperative to speak to your doctor and receive coordinated care with a multidisciplinary healthcare team.

To improve the quality of life for individuals with EI, since it causes vulnerable skin, it is important to prevent injuries with the condition. This can be accomplished by wearing comfortable, loose clothes and well-fitting shoes.²

FAQs

What is another name for epidermolytic ichthyosis?

Epidermolytic Ichthyosis is also known as Epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma.

Is epidermolytic ichthyosis hereditary?

Yes. It is a genetic disorder that can affect babies born with specific mutations and inheritance patterns. It may be helpful for pregnant individuals to seek genetic counselling in order to assess the risk.

How common is epidermolytic ichthyosis?

It has been noted that the condition occurs in about 1 in every 200,000 infants due to significant changes in the genes responsible for keratin proteins, especially keratin 1 and 10.³

Can individuals with epidermolytic ichthyosis lead a normal life?

Despite the challenges faced due to EI, with proper management and support, individuals with EI can definitely lead fulfilling lives. 

When do I need to consult a doctor?

If you or your child show signs or symptoms, you should see a skin specialist for further examination. 

Is there a cure for epidermolytic ichthyosis?

There's no cure, and the condition gets worse over time. Treatment mainly focuses on managing symptoms, and the approach depends on the patient's age and how they're affected.²

Summary

Epidermolytic Ichthyosis (EI) is a rare genetic skin condition that primarily manifests soon after birth. It results from mutations in specific genes, such as KRT1 and KRT10, which play a role in producing skin proteins. EI leads to various symptoms, including blistered skin, thickened and scaly skin, redness, and sometimes joint contractures. To diagnose the condition, medical professionals conduct clinical and histopathological examinations, often confirmed through genetic testing.

Treatment for EI primarily focuses on managing symptoms. For infants, close monitoring is essential to address issues like dehydration, electrolyte imbalances, and skin infections. The medical team, including dermatologists and pharmacists, collaborates to develop a tailored treatment plan. This often involves using topical emollients and protective padding to care for the skin.

Understanding EI's genetic basis is vital for predicting disease severity and treatment response. It's also crucial to stay educated on minimising mechanical trauma to the skin by wearing comfortable clothing and well-fitting shoes. Despite EI's chronic nature and lack of a cure, coordinated care with a professional healthcare team can improve your quality of life.