Epidermodysplasia verruciformis. A case report and brief literature review



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Abstract

Epidermodysplasia Verruciformis (Lewandowsky and Lutz's Dysplasia, EV) is a rare autosomal recessive disease manifested by multiple HPV-associated skin lesions. To date, no more than 500 patients with this form of genodermatosis are known in the world. Hereditary forms of EV are caused by the presence of inactivating mutations in the TMC6, TMC8, CIB1, RHOH, and IL7 genes in a homozygous or compound heterozygous form. A non-classical variant of hereditary EV associated with primary T-cell immunodeficiency as a result of mutations in the genes CORO1A, CARMIL2, DCLRE1C, DOCK8, ECM1, GATA2, LCK, MST1, RASGRP1, TPP2 is also described. Acquired EV develops, as a rule, against the background of secondary immunodeficiency of various origins.

The low frequency and insufficient diagnostic experience explains the lack of treatment standards and clinical recommendations for patients with EV. A part of researchers describe the treatment of EV using chemotherapeutic drugs, immunomodulators, interferons, retinoids and other drugs, in combination with surgical excision or destruction of foci by physical methods. This article presents the clinical case of aggressive form of EV without previous immunodeficiency and alteration of key genes with a description of the patient's experience of treatment – combination of the retinoids and CO2-laser destruction of skin formations.

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About the authors

Tatiana S. Belysheva

Blokhin National Medical Research Center of Oncology

Email: klinderma@bk.ru
ORCID iD: 0000-0001-5911-553X
SPIN-code: 2645-4049
Scopus Author ID: 57210744855

D. Sci. (Med.)

Russian Federation, Moscow

Ekaterina Zelenova

Author for correspondence.
Email: zelenovayeye@gmail.com
ORCID iD: 0000-0002-2197-8863
SPIN-code: 6823-6353
Russian Federation

Alexander A Prokofiev

“Dermatology Center Petrovka 15”

Email: alex-prok3@mail.ru
ORCID iD: 0000-0002-2466-785X
SPIN-code: 7891-8285

врач-дерматовенеролог

Russian Federation, Moscow

Vera V. Semenova

Blokhin National Medical Research Center of Oncology; Engelhardt Institute of Molecular Biology

Email: sulpiridum@yandex.ru
ORCID iD: 0000-0002-9705-1001

Graduate Student

Russian Federation, Moscow

Peter A Sparber

Research Centre for Medical Genetics, Moscow, Russian Federation

Email: psparber93@gmail.com
ORCID iD: 0000-0002-9160-0794
Moscow

Irina Kletskaya

Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow, Russian Federation

Email: ikletskaya@gmail.com
ORCID iD: 0000-0002-4066-179X
Russian Federation, Moscow

Gunel А. Аleskerova

Azerbaijan Republic Ministry Of Health National Center Of Oncology, Baku, Azerbaijan

Email: aleskerova@rambler.ru
ORCID iD: 0000-0001-7514-5413

Graduate Student

Russian Federation, Baku

Timur T. Valiev

National Medical Research Center of Oncology named after N.N. Blokhin

Email: timurvaliev@mail.ru
ORCID iD: 0000-0002-1469-2365
SPIN-code: 9802-8610

MD, Dr. Sci. (Medicine), Professor

Russian Federation, Moscow

Tatiana V. Nasedkina

Engelhardt Institute of Molecular Biology

Email: tanased06@rambler.ru
ORCID iD: 0000-0002-2642-4202

D. Sci. (Biol.)

Russian Federation, Moscow

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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
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