What is Epidermodysplasia Verruciformis?
Epidermodysplasia verruciformis is an uncommon skin condition caused by an inherited gene. People with this condition have a weakened ability to fight off specific types of human papillomavirus (HPV), a group of viruses that can cause infections. As a result, they have a lifelong increased risk of developing skin abnormalities and skin cancers. It is well-known that viral infections like HPV can lead to different forms of cancer. Certain types of HPV are more likely to cause skin abnormalities and skin cancers.
People with this condition have skin lesions associated with HPV much more often than the general population. The skin condition shows up primarily as rough skin lesions that look like warts, or lesions that resemble a skin condition called pityriasis versicolor. This also leads to the development of Bowen’s disease and squamous cell carcinoma, two types of skin cancer. The skin lesions related to this condition tend to have certain recognizable features when looked at under a microscope.
While epidermodysplasia verruciformis is rare, research has taught us a lot about how viral infections can cause cancer. There are mainly two types of this condition:
- The classic form, also known as the inherited or primary type, is passed down through families in a pattern known as autosomal recessive. This means both parents must carry a copy of the faulty gene, and even then, the chance of a child getting the disease is one in four.
- The acquired form, also known as the secondary type, is virtually impossible to distinguish from the classic form. This form of the disease is mainly seen in people with HIV, people whose immune systems are weakened, or people on medications that suppress the immune system.
What Causes Epidermodysplasia Verruciformis?
Epidermodysplasia verruciformis is caused by a weak immune system’s struggle to fight off and get rid of HPV, or Human Papillomavirus infection. This condition was first described in 1922, and since then, several types of HPV have been linked to the development of skin lesions in patients. The most common types of HPV found in skin cancers related to this condition are types 5 and 8, making up to 90% of cases. Other HPV types that may be found include 9, 12, 14, 15, 17, 19, 20, 21, 22, 23, 24, 25, 36, 38, 47, and 50. Interestingly, a study found that HPV 5 was the most commonly identified single type. They also found that contrary to other studies, types 3, 14, and 20 were found more commonly than HPV 8.
This condition is often inherited from parents via a mutation in specific genes (TMC6/EVER1 or TMC8/EVER2). This mutation is believed to cause a defect in the body’s ability to mount an immune response to certain HPV types. However, patients with this form often do not display weakened immune responses to other infectious diseases. It’s also worth noting that these HPV types can be found in people without these mutations or the condition itself, but they have not been shown to cause irregular cell growth or cancer. Skin malignancies usually develop in affected patients in association with certain types of HPV and usually not before their 30s, many years after the initial symptoms.
The condition sometimes occurs in individuals who have a history of weakened immunity, often due to treatment. This development is believed to be due to an impaired T-cell–mediated immunity in individuals with certain genetic mutations. However, not everyone with a weakened immune system and these mutations will develop this condition. This differs from the inherited form of the disease, which arises from certain characteristic mutations and is generally more predictable.
A patient who had a kidney and a pancreatic transplant was reported to have developed Epidermodysplasia verruciformis lesions due to trauma from a Brazilian hot wax hair removal. The skin became bare from the hot wax treatment, and a brownish-red skin plaque developed as it healed. The patient denied any family or personal history of this condition. Fortunately, a part of the lesion was successfully treated with a topical medication, which resulted in a better outcome and less skin discoloration compared to freezing, used on another part of the lesion.
Risk Factors and Frequency for Epidermodysplasia Verruciformis
Epidermodysplasia verruciformis is a very rare skin condition. According to a study in 2017, only around 500 cases have been reported globally. It usually starts in early childhood and continues to create new skin lesions throughout the person’s life. These skin lesions, persistently infected with beta-HPV, may turn into non-melanoma skin cancer over time. In fact, 30% to 70% of people with this condition may develop squamous cell carcinoma, a type of skin cancer, in their lifetime. It’s important to note that the condition appears to affect people equally, regardless of their gender or where they are in the world.
Signs and Symptoms of Epidermodysplasia Verruciformis
Epidermodysplasia verruciformis, which can be both innate or developed later in life, shows similar symptoms in patients. The main sign is skin lesions similar to flat warts or slightly scaly bumps, found often on areas like the chest, neck, or face. These can visually mimic another skin condition known as pityriasis versicolor. These skin abnormalities can appear in various spots across the body. For people with the inborn version of this disease, these skin issues may arise as early as infancy and continue for their entire lifespan, primarily appearing on portions of skin that see a lot of sun exposure. If a direct relative also suffered from epidermodysplasia verruciformis, this can aid in diagnosis. For individuals who have acquired this disease, commonly due to HIV or when medically induced immune system suppression is involved, knowing this history is vital for identifying their condition accurately.
Testing for Epidermodysplasia Verruciformis
To definitively confirm and diagnose a rare skin condition called epidermodysplasia verruciformis, a skin doctor, or a dermatologist, will usually conduct a careful examination. In addition to this, a pathologist, a scientist who studies diseases, will look at the suspect skin lesions under a microscope. This process is called histopathological analysis.
Diagnosing epidermodysplasia verruciformis can be tough since it’s a rare disease and not all doctors may be familiar with it. However, particular signs that can be seen under the microscope can assist in making the diagnosis. Also, if a family member has had a similar condition or if a person developed multiple similar lesions at a young age, these factors can provide additional clues.
It’s crucial for dermatologists to check suspected skin lesions and for pathologists to examine these lesions under the microscope to reach an accurate diagnosis. Moreover, there’s a method available now to analyze a person’s genes (molecular analysis) and detect known mutations or changes linked with epidermodysplasia verruciformis.
Treatment Options for Epidermodysplasia Verruciformis
Epidermodysplasia verruciformis is a skin condition for which there is currently no definitive cure. Yet, there are several treatment options doctors can consider. These include surgical removal of skin lesions, as well as various drug therapies such as acitretin, imiquimod, interferons combined with retinoids, a skin cream called calcipotriol, and cimetidine (although the effectiveness of cimetidine is disputed).
Since this skin condition often affects areas exposed to sunlight, protective measures like wearing sunscreen and avoiding peak sunlight hours are important. People living with epidermodysplasia verruciformis should have regular dermatology check-ups — at least once a year or more often if needed — to track any new or worrisome skin changes. If a skin lesion raises suspicion of turning into skin cancer, it should be surgically removed and examined under a microscope.
Although radiation therapy is frequently used for people with a type of skin cancer called squamous cell carcinoma in the membrane that covers the whites of the eyes (conjunctiva), it’s not advised for people with epidermodysplasia verruciformis. This is because radiation therapy has been found to lead to the formation of more aggressive and severe skin lesions in such cases. However, in situations where this type of cancer has spread beyond the original site and didn’t originate in the conjunctiva, radiation therapy might be considered as an additional treatment option.
What else can Epidermodysplasia Verruciformis be?
When a doctor checks skin lesions from a condition called epidermodysplasia verruciformis, they also need to consider other conditions that might look similar. These include:
- Lesions associated with warts
- Any skin growth with signs of hyperkeratosis and parakeratosis (thickening of the skin)
- Seborrheic keratosis (noncancerous skin growths)
- Actinic keratosis (rough, scaly patches on the skin)
- Squamous cell skin carcinoma (a type of skin cancer)
There have also been rare cases where epidermodysplasia verruciformis has appeared similar to a skin condition called pityriasis versicolor.
It’s important to note that in the case of epidermodysplasia verruciformis, the skin lesions usually appear in multiple spots and show up at a young age (even in infancy for the inherited form) or occur in people with weakened immune systems. This contrasts with the other conditions, which typically present as single lesions or develop at a later age.
What to expect with Epidermodysplasia Verruciformis
Epidermodysplasia verruciformis is a disease that lasts a lifetime and it can be hard to treat using standard methods. There’s a significant chance, estimated to be between 30% to 60%, that the disease can turn into cancer. This risk is mainly related to certain types of the human papillomavirus (HPV), specifically types 5 and 8.
Treatment has to be ongoing. It should focus on thorough protection against sunlight (photoprotection), regular skin check-ups for early detection of cancer, and interventions like surgery, retinoids (a type of medication that promotes the growth of healthy skin) and therapies that modify the immune system to control the disease’s skin lesions (abnormal skin growths).
Possible Complications When Diagnosed with Epidermodysplasia Verruciformis
Epidermodysplasia verruciformis can lead to numerous problems because of its long-term, worsening nature and the increased risk for specific HPV infections. The most familiar complication is the formation of non-melanoma skin cancers, especially squamous cell carcinoma, in about 30% to 60% of patients. These cancers often appear in sun-exposed areas by the third or fourth decade of life. Apart from the risk of cancer, the lesions are typically resistant to usual treatments. This results in continuous and widespread wart-like lesions that can significantly affect the life quality of the patients. These persistent and visible lesions can cause severe emotional distress, including societal stigma, anxiety, and depression.
Common Complications:
- Non-melanoma skin cancers
- Squamous cell carcinoma
- Resistant lesions
- Widespread wart-like lesions
- Significant life quality impairment
- Societal stigma
- Anxiety
- Depression
Preventing Epidermodysplasia Verruciformis
People who have a skin condition called epidermodysplasia verruciformis should understand how important it is to protect their skin from the sun. This includes applying sunscreens that guard against most types of sunlight, wearing clothes that cover the skin and avoiding staying out in the sun for too long. These steps can help lower the chance of damage from sunlight leading to skin cancer.
It’s critical to know what the signs and symptoms of skin cancer look like, and to get medical help quickly if you notice any changes in skin growths or spots. Sticking to regular skin check-ups can help in spotting and treating any skin growths that could turn into cancer early.
It is helpful to learn about how this skin condition tends to stick around for a long time and what treatments are available. Understanding this can help you to follow treatment plans properly. Also, being provided with emotional support and resources can help you handle the emotional side-effects of the disease, leading to a better overall quality of life.
