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Writer's pictureShruti GOCHHWAL

Tree Man Syndrome: A Rare and Deadly Disease

Epidermodysplasia verruciformis (EV), also known as Tree man syndrome, is a genetic dermatologic condition. In this syndrome, the person develops cutaneous dysplasia and malignancy of the skin due to persistent infection caused by various Human papillomaviruses. The genodermatosis condition is a sporadic genetic disease in which the person develops HPV-derived cutaneous lesions at a much higher rate than the general population.

Types of Epidermodysplasia verruciformis (EV)

There are broadly two forms of EV:

  1. The inherited or primary type- In which the person inherits an autosomal recessive pattern from a family member. It is the most classic form of EV.

  2. Separate acquired or secondary type- It is observed in immunocompromised, or immunosuppressed individuals and is mainly observed in HIV-infected individuals. This type is clinically almost indistinguishable.

Symptoms of the disease

Epidermodysplasia verruciformis (EV) manifests mainly as:

  1. Verrucous cutaneous lesions

  2. Multiple persistent verrucae,

  3. Pityriasis Versicolor-like lesions,

  4. “Warty” cutaneous lesions

  5. Development of Bowen disease

  6. Squamous cell carcinoma.

The areas most commonly affected are hand, feet, face, and ears. Most of these lesions of EV tend to exhibit tree bark or tree root-like appearance, which gives it another name called a tree-like disease or tree-man syndrome.

Causes

HPV

HPV can cause tree man syndrome, Credits: pixabay


EV is a rare genetic disease in which the patient shows a decreased immunologic ability to defend against and eradicate certain types of HPV. It may cause persistent HPV infection in the individual, causing increased lifetime risk of developing EV.

Numerous research has elucidated the role of viral infection in stimulating carcinogenesis pathways. The studies have indicated that EV is an autosomal recessive condition caused by a mutation of TMC6/EVER1 or TMC8/EVER2 transmembrane channel proteins.  Both these transmembrane proteins are involved in modifying the immune response towards certain types of HPV within keratinocytes. These proteins also influence intracellular zinc concentration which has an important role in immune function.

There are more than 50 types of HPV, implicated in the development of cutaneous lesions in patients with EV. The most commonly identified HPV types involved in EV are HPV5 and HPV8. These two types are found to be present in up to 90% of EV-related skin cancers.

HPV vaccines given during early childhood can help prevent disease like tree-man syndrome.

Diagnosis:

Doctor diagnosing patient skin

Doctor diagnosing skin, Credits: pixabay


Diagnosis of EV is difficult due to its rarity and the clinician’s lack of awareness. Some necessary diagnosis of EV involves

  1. Clinical examination of the skin

  2. A pathologist’s histopathologic examination of the skin lesions

  3. Molecular analysis identifying known mutations associated with EV.

Treatment:

HPV treatment

Treatment for HPV, Credits: pixabay


There is no cure for EV. However, the symptoms of the disease can be managed through some medications, therapies, and lifestyle changes.

Medical management options include:

  1. Systemic or topical retinoids

  2. Interferon-alpha

  3. Cholecalciferol

  4. topical ointments such as Verrugon that contain salicylic acid

Therapies may include

  1. Cryotherapy: freeze the further growth of lesions

  2. Laser surgery or electrosurgery: helps remove or destroy growths and other skin lesions.

  3. Chemical treatments, such as liquid nitrogen

Lifestyle changes

  1. Limiting sun exposure

  2. Quitting smoking

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