What is Epidermodysplasia Verruciformis?
Epidermodysplasia Verruciformis is a genetically inherited immune condition which makes the affected people prone to chronic HPV infections. In majority of the cases, Epidermodysplasia Verruciformis is inherited as autosomal recessive trait meaning that two copies of the defective gene needs to be inherited from the parents. However, there have been instances where people have inherited epidermodysplasia verruciformis in an autosomal dominant manner meaning that one copy of the defective gene is enough for a person to get this condition even though such cases are quite sporadic.[1,2]
In most cases of Epidermodysplasia Verruciformis, consanguineous marriages are believed to be responsible. Chronic lymphopenia has also been known to be associated with cases of Epidermodysplasia Verruciformis. Aside from chronic HPV infection, an individual with Epidermodysplasia Verruciformis will also have eruptions of wartlike skin lesions spread pretty much all across the body.[1,2]
Epidermodysplasia Verruciformis makes a person prone to chronic HPV infection which is an extremely contagious disease and can transmit through skin to skin contact.
Even asymptomatic patients can become spreaders through physical contact.[1,2]
What Causes Epidermodysplasia Verruciformis?
As stated, Epidermodysplasia Verruciformis is primarily an autosomal recessive trait. This means that one copy each of the defective genes should be inherited from each parent. However, a few sporadic instances of autosomal dominant pattern of inheritance have also been observed. Consanguineous marriages are believed to be responsible for Epidermodysplasia Verruciformis in about 10% of the cases. Epidermodysplasia Verruciformis does not have a gender bias meaning that both males and females can get it equally.[1,2]
Additionally, Epidermodysplasia Verruciformis has been seen more in people with preexisting conditions like HIV, lymphoma, and surgery for organ transplant. The gene responsible for Epidermodysplasia Verruciformis is believed to be EVER1/TMC6 and EVER2/TMC8. The function of these genes is to promote transportation of zinc within cells of the body. Zinc is extremely important as it boosts the immune function. This is the reason why people with Epidermodysplasia Verruciformis become immune compromised and at high risk for getting infections like HPV.
What are the Symptoms of Epidermodysplasia Verruciformis?
Wartlike lesions mostly seen in the upper and lower extremities are the primary symptom of Epidermodysplasia Verruciformis. Other symptoms of this condition include formation of reddish or dark brown papules which have a flat top and are raised. There are also inflamed scaly patches of skin with irregular edges. These wartlike lesions develop in clusters with each cluster containing around 100 lesions. Hands, feet, ears, and face are the most common areas where these lesions are seen. The neck, arms, and trunk are associated with much larger lesions.
Some of the other areas where these lesions can be observed are the armpits, soles of feet, genitals, and palms of hands. Studies suggest that majority of the symptoms, approximating up to 60%, of Epidermodysplasia Verruciformis develop in childhood, around 20% develop in adolescence, and around 10% in infancy.
How is Epidermodysplasia Verruciformis Treated?
Since Epidermodysplasia Verruciformis is a genetic and inherited condition, it does not have any cure. Treatment is focused on addressing the symptoms with medications, lifestyle changes, and therapies. Use of topical and systemic retinoids is the frontline treatment for Epidermodysplasia Verruciformis. The function of these medications is to prevent the patient from developing HPV infection. They also help in reducing the inflammation of the skin. It may take as long as six months for a complete course of these medications to get full efficacy.
Interferon alpha is also quite effective in managing the symptoms of Epidermodysplasia Verruciformis. These medications have compounds that inhibit cell growth and also are quite effective in treating viral infections. In addition to medications, certain lifestyle changes are also quite vital for people with Epidermodysplasia Verruciformis. These include avoiding overexposure to sunlight.
It is important to use sunscreens and covering as much area of the body as possible. This will prevent worsening of inflammation and protect the body from skin cancer. Quitting smoking is not only good for overall health but also vitally important for people with Epidermodysplasia Verruciformis. This is because smoking affects the immune function of the body. There are also therapies like cryotherapy and laser surgery that are quite effective in treating the lesions that develop in people with Epidermodysplasia Verruciformis. Electrosurgery is equally effective in treating the lesions caused by Epidermodysplasia Verruciformis. In cases, where these skin growths become malignant then the physician will recommend removal of the growths surgically to prevent the cancer from spreading.
As Epidermodysplasia Verruciformis is a genetic disorder and does not have a cure, an individual diagnosed with it has to deal with the condition life-long. The symptoms however as stated can be managed with the treatments as described above and prevent any complications arising from it. There is no effect of Epidermodysplasia Verruciformis on the life expectancy of a person as long as the patient gets regular treatment and keeps the symptoms under control.
To summarize, Epidermodysplasia Verruciformis is a genetic disorder which affects the immune system and makes a person vulnerable to the HPV infection.
Epidermodysplasia Verruciformis is an autosomal recessive trait but there have been rare instances of an autosomal dominant pattern of inheritance.[1,2]
If a person has a direct family member with a diagnosis of Epidermodysplasia Verruciformis or has a history of consanguineous marriage in the family then he or she should get a genetic testing done to have an idea whether there is a risk for developing Epidermodysplasia Verruciformis.[1,2]