Title : Lepromatous hansens disease in a patient with epidermodysplasia verruciformis; An occurrence by chance?
Abstract:
Introduction: Epidermodysplasia verruciformis, also known as ‘Tree Man Syndrome’, is a rare genodermatoses due to mutation in genes TMC6/EVER1 or TMC8/EVER2 which are transmembrane channel proteins that serve to limit and restrict viral replication and gene expression of beta-HPV within keratinocytes in which patients show a decreased immunologic ability to defend against and eradicate certain types of HPV, leading to persistent infection and increased lifetime risk of development of cutaneous dysplasia and malignancy like squamous cell carcinoma. These patients do not generally display reduced immune capabilities against other infectious pathogens.
Description: A 21 year old male patient, diagnosed with epidermodysplasia verruciformis since the age of three months presented to the clinic with history of multiple episodes of red raised painful tender lesions which resolved spontaneously to leave behind pigmented lesions, history of swelling of hands and feet.
On examination multiple hypo and hyper pigmented papules and plaques with verrucous surface all over the body and multiple hyper-pigmented tender nodules over the right arm and chest with swelling of fingers over both hands and pedal edema, the patient showed facial features of depressed nasal bridge, supraciliary madarosis, nodular infiltration of both ears.
Peripheral nerve examination revealed thickened, non-tender right post-auricular nerve, sensory examination revealed reduced sensations over both hands and feet. Slit skin smear from bilateral ears showed viable acid fast bacilli and histopathological examination confirmed features of lepromatous leprosy. In light of these findings, a diagnosis of Lepromatous leprosy in type-2 reaction with epidermodysplasia verruciformis (EDV) was made and the patient was started on Multi drug therapy.
The patient exhibited type II lepra reaction which is an inflammatory systemic reaction in which immune complexes can deposit in any organ or tissue and can have varied presentations. Neuritis, orchitis, uveitis, periostitis, lymphadenitis, and glomerulonephritis can occur rarely. Multi drug therapy (MDT) should be immediately started for multibacillary leprosy, the key to treating the disease and providing relief to the patient. It comprises of dapsone, clofazimine, and rifampicin, which are taken orally daily for 6-12 months depending on the severity of the case. By providing multi-drug therapy, the patient can be relieved of their symptoms and prevented from suffering any long term complications.
Conclusion: No definitively effective treatment for EV exists. Several possible treatments are recommended from excision to other therapies such as acitretin and imiquimod, interferons with retinoids, cimetidine (although there is debate as to the efficacy of this treatment), to topical calcipotriol. Patients with EV will require annual or more frequent check-ups with dermatologists to evaluate for development of new worrisome lesions
Audience Take Away Notes:
- Patients with epidermodysplasia verruciformis should be regularly monitored by dermatologists for risk of development of malignancy as well as the development of any other diseases due to immune suppression
- Although these patients do not display reduced immune capabilities against other pathogens, Dermatologists should be watchful of patietnts with epidermodysplasia for the development of other infectious diseases
- This study highlights the need for vigilence and reporting of any associated diseases in such patients
