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Epidermodysplasia Verruciformis (EV): Causes, Symptoms, Diagnosis And Treatment
Epidermodysplasia verruciformis (EV), also known as treeman syndrome, is a very rare autosomal recessive hereditary skin disorder. It makes the patient highly susceptible to infections caused by the human papillomavirus (HPV)[1] . This HPV infections cause scaly macules and papules resembling tree bark to grow on the hands and feet. People between 1 to 20 years of age are mostly diagnosed by this syndrome. This disease is also called as Lewandowsky-Lutz dysplasia, named after the physicians who first documented it, Felix Lewandowsky and Wilhelm Lutz.
Continue reading to find out about the associated symptoms, causes, diagnosis, treatments and prevention of this condition.
Causes Of Epidermodysplasia Verruciformis (EV)
This rare disorder is a kind of genetic disease that is caused by an impaired immune response to the HPV ( human papillomavirus). HPV has over 70 subtypes that can cause warts. Some of the subtypes have minimal or no clinical effect in most of the people. However, the same subtypes result in the clinical features of epidermodysplasia verruciformis in some people. The patient must have two abnormal EV genes - one from each parent, to develop EV. In most cases of EV, the genetic mutation is sporadic, that means it develops when the sperm or egg first forms [2] .
Symptoms Of Epidermodysplasia Verruciformis (EV)
This rare skin disease is mostly associated with wart-like lesions covering parts of the body. Symptoms usually are a mix of the following:
- Bump lesions that are flat at the top
- Small-sized raised bumps known as papules
- Raised brown lesions that resemble scabs
- Patches of raised and inflamed skin called plaques
The appearance of flat lesions is common in the areas that are exposed to the sunlight most of the times. Hence, face, ears, hands and feet are more likely to be affected. It is referred to as "tree-man syndrome" or "tree-man disease" due to the tree-bark like appearance of the lesions. Growth of the lesions can go from a few to 100 warts in some cases.
The appearance of plaques is common in the following areas:
- Trunk
- Legs
- Neck
- Arms
- Palms of the hands
- Soles of the feet
- External genitals
- Armpits [3]
Risk Factors
About 10 per cent of people with EV have parents who were blood relatives, that means they had a common ancestor [4] . Though people with EV have a normal immune response to non-HPV infections, they are more prone to infections with particular HPV subtypes. There are over 70 HPV subtypes that can cause warts.
About 7.5% of EV cases appear in infancy, 61.5% in children aged 5 to 11 years and 22.5% in puberty. The disease affects both males and females and people of all races.
Diagnosis Of Epidermodysplasia Verruciformis (EV)
Doctors mostly begin with documenting the medical history of the patients and will try to have an understanding of the symptoms. Doctors ask questions like when warts first appeared and how they responded to any treatment. It is advisable to see a dermatologist if you notice any unusual lesions or warts appear, even if they look mild.
In order to diagnose your condition, your doctor may take small tissue samples for a biopsy. The skin biopsy for EV includes tests to detect the onset of HPV and other signs that may hint towards EV [5] .
Treatments Of Epidermodysplasia Verruciformis (EV)
The treatment involves alleviating symptoms, as there is no permanent cure to EV. The non-surgical treatment options include
- chemical treatments such as liquid nitrogen,
- topical ointments that contain salicylic acid, and
- cryotherapy, in which the wart is destroyed by freezing it [6] .
There are many surgical options available. One of them is curettage, in which a spoon-shaped device called curette is used to carefully scrape away a lesion [7] . The surgeon tries to preserve as much healthy skin under and around the lesion as possible. Although surgery can be successful in removing the lesions, it may be a temporary solution. Lesions can develop again. However, they may never come back or may take years to return.
Reducing sun exposure and using sunscreen is another effective method to help preserve the health of your skin. Two-thirds of people with EV develop skin cancer, usually in their 20s or 30s. Patients are recommended to follow the advice of their dermatologist about sun protection to keep the risks of skin cancer at bay [3].
Prevention Of Epidermodysplasia Verruciformis (EV)
Since this syndrome is inherited, there are not many preventive measures anyone can take to stop the onset of this condition. However, if you have any family history of this disease, or your parents carry the abnormal genes, it is better to talk to the doctor and get your genes tested, before the next steps can be determined. Exposure to sunlight or ultraviolet radiation increases the chance of a benign wart developing into skin cancer.
- [1] Ramagosa, R., de Villiers, E. M., Fitzpatrick, J. E., & Dellavalle, R. P. (2008). Human papillomavirus infection and ultraviolet light exposure as epidermoid inclusion cyst risk factors in a patient with epidermodysplasia verruciformis?.Journal of the American Academy of Dermatology,58(5 Suppl 1), S68.e1–S68.e6.
- [2] Kalińska-Bienias, A., Kowalewski, C., & Majewski, S. (2016). The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients.Postepy dermatologii i alergologii,33(2), 75–80.
- [3] de Jong, S. J., Imahorn, E., Itin, P., Uitto, J., Orth, G., Jouanguy, E., … Burger, B. (2018). Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.Frontiers in microbiology,9, 1222.
- [4] Stray-Pedersen, A., Jouanguy, E., Crequer, A., Bertuch, A. A., Brown, B. S., Jhangiani, S. N., … Noroski, L. M. (2014). Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.Journal of clinical immunology,34(7), 871–890. doi:10.1007/s10875-014-0074-8
- [5] Patel, T., Morrison, L. K., Rady, P., & Tyring, S. (2010). Epidermodysplasia verruciformis and susceptibility to HPV.Disease markers,29(3-4), 199–206.
- [6] Kirchhof, M. G., & Au, S. (2015). Brazilian waxing and human papillomavirus: a case of acquired epidermodysplasia verruciformis.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne,187(2), 126–128. doi:10.1503/cmaj.140198
- [7] Ekeowa-Anderson, A. L., Harwood, C. A., Perrett, C. M., Sahota, A., Annan, H., Ran, H., … Gibbon, K. L. (2007). Vulval intraepithelial neoplasia and periungual Bowen's disease concordant for mucosal (HPV-34) and epidermodysplasia verruciformis (HPV-21) human papillomavirus types.Clinical and experimental dermatology,32(3), 304–307.
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