Epidermodisplasia verruciforme y carcinoma epidermoide - diagnóstico y tratamiento / Verruciform epidermodysplasia and epidermoid carcinoma - diagnosis and treatment

La epidermodisplasia verruciforme es una genodermatosis precancerosa de tipo autosómica recesiva, infrecuente, de distribución mundial. Los portadores de esta enfermedad presentan una inmunodepresión celular selectiva contra determinados tipos de virus papiloma humano, sobre todo con los genotipos 5 y 8, desarrollando desde edades tempranas de la vida lesiones semejantes a pitiriasis versicolor, verrugas planas y queratosis seborreicas, muy extendidas, crónicas y refractarias al tratamiento. Es habitual la aparición de carcinomas escamosos múltiples, especialmente en el contexto de cofactores carcinogénicos como el sol. Presentamos a un paciente con diagnóstico de epidermodisplasia verruciforme, que evidenciaba lesiones tipo verrugas planas, queratosis seborreicas y carcinoma escamoso, la cual fue tratada con excéresis con margen de seguridad y reconstrucción con injerto de piel parcial y colocación de sistema de aspiración sellada al vacío con buena evolución.

Verruciform epidermodysplasia is a rare, autosomal recessive precancerous genodermatosis with a worldwide distribution. Carriers of this disease present a selective cellular immunosuppression against certain types of human papilloma virus, especially with genotypes 5 and 8, developing from early ages of life lesions similar to pityriasis versicolor, flat warts and seborrheic keratoses, very widespread, chronic and refractory to treatment. Multiple squamous cell carcinomas are common, especially in the context of carcinogenic cofactors such as the sun. We present a patient with a diagnosis of verruciform epidermodysplasia, who evidenced flat wart-like lesions, seborrheic keratoses and squamous carcinoma, which was treated with excision with a margin of safety and reconstruction with partial skin graft and placement of a vacuum-sealed aspiration system with good evolution.

Epidemiology and biology of cutaneous human papillomavirus

Cutaneous human papillomaviruses (HPVs) include β- and γ-HPVs, in addition to a small fraction of α-HPVs. β-HPVs were first isolated from patients with the rare genetic disorder Epidermodysplasia verruciformis, and they are associated with the development of nonmelanoma skin cancer at sun-exposed skin sites in these individuals. Organ transplant recipients also have greater susceptibility to β-HPV infection of the skin and an increased risk of developing nonmelanoma skin cancer. In both immunosuppressed and immunocompromised individuals, cutaneous HPVs are ubiquitously disseminated throughout healthy skin and may be an intrinsic part of the commensal flora. Functional analysis of E6 and E7 proteins of specific cutaneous HPVs has provided a mechanistic comprehension of how these viruses may induce carcinogenesis. Nevertheless, additional research is crucial to better understand the pathological implications of the broad distribution of these HPVs.

Epidermodysplasia verruciformis associated with idiopathic CD4+ lymphopenia / Epidermodisplasia verruciforme asociada a linfopenia idiopática de CD4+

Abstract Epidermodysplasia verruciformis (EV) is an autosomal recessive disease of the skin commonly associated with EVER1 and EVER 2 mutations, and is characterized by high susceptibility to infections associated with certain types of human papillomavirus called EV-PVH. Patients have warty lesions on the skin of varying characteristics and are often associated with skin cancer, with a strong association being found with EVER1 and EVER2 mutation gene. The case presented below concerns an absolute CD4+ lymphopenia, and establishes the hypothesis of a possible mutation of the RHOH gene as its origin.

Resumen La epidermodisplasia verruciforme (EV) es una enfermedad de la piel autosómica recesiva, relacionada con la mutación EVER1 y EVER2, caracterizada por alta susceptibilidad a infecciones asociadas a ciertos tipos de papillomavirus humano llamadas EV-PVH. Los pacientes presentan lesiones verrucosas en la piel de características variadas y muchas veces asociadas a cáncer de piel no melanocítico, encontrándose una fuerte asociación con la mutación del gen EVER1 y EVER2. El caso que se presenta a continuación documenta linfopenia absoluta de CD4+ por lo que se plantea la hipótesis de una posible mutación del gen RHOH como etiología.

Epidermodisplasia verruciforme / Epidermodysplasia verruciformis

La epidermodisplasia verruciforme (EV) es una genodermatosis rara, caracterizada por el desarrollo de verrugas planas y lesiones similares a pitiriasis versicolor, asociada a infección crónica por Virus Papiloma Humano. Se reporta el caso de EV. Mujer de 49 años con múltiples lesiones verrucosas de larga evolución distribuidas en las cuatro extremidades y antecedente familiar de cuadro similar. Biopsia a los 19 años evidenció verrugas sin atipia. Nuevo estudio histológico informó carcinoma escamoso, decidiéndose extirpación de lesiones. La clínica inicia en edades tempranas, con elevado riesgo de transformación maligna. No existe tratamiento específico. Es esencial la fotoprotección estricta y manejo precoz de lesiones para prevención de progresión a carcinoma.

Epidermodysplasia verruciformis (EV) is a rare genodermatosis, characterized by the development of plane warts and pityriasis versicolor-like lesions, associated with chronic infection caused by the Human Papilloma virus. An EV case is reported. 49 year-old woman with multiple long standing warty lesions distributed on the four limbs and family background of similar cases. Biopsy at 19 years old evidenced warts without atypia. New histological study reported squamous cell carcinoma, deciding the removal of the lesions. The clinic begins at early age, with high risk of malignant transformation. There is no specific treatment. Strict photoprotection and early management of the lesions is essential to prevent the progression to carcinoma.

Verrugosis generalizada con linfedema, inmunodeficiencia y displasia genital: síndrome WILD / Generalized verrucosis with limphoedema, immunodeficiency and genital dysplasia: WILD syndrome

La verrugosis generalizada es un rasgo común a diferentes síndromes de inmunodeficiencia, cuyo prototipo es la epidermodisplasia verruciforme (EV). Se presenta una paciente con síndrome WILD (Warts, Immunodeficiency, Lymphoedema, anogenital Dysplasia), que consultó por verrugas profusas, con displasia genital y linfedema. La presencia de DNA para los papilomavirus de los grupos I y II se reveló con hibridización molecular por captura híbrida en microplaca para detección del DNA de HPV de lesiones de cuello uterino. La inmunofenotipificación en sangre periférica demostró población linfoide con moderado aumento de poblaciones NK y TNK, sin evidencia inmunofenotípica de población B clonal. Las verrugas planas mejoraron con retinoides sistémicos e imiquimod tópico. La displasia genital desapareció luego de la vacunación para HPV con vacuna cuadrivalente (AU)

Generalized verrucosis is a common characteristic of several immunodeficiency disorders whose prototype is the epidermodysplasia verruciformis. We report a patient with WILD SYNDROME (Warts, Immunodeficiency, Lymphoedema and anogenital Dysplasia) who consulted for profuse warts, genital dysplasia and limphoedema. The presence of DNA from papillomavirus groups I and II was revealed by molecular hybridization with hybrid capture in microplate for HPV DNA detection of uterine cervical lesions. Immunophenotyping in peripheral blood showed lymphoid population with moderate increase in NK and TNK populations without immunophenotypic evidence of clonal B population. Flat warts improved with systemic retinoids and topical imiquimod. The genital dysplasia disappeared after vaccination with quadrivalent HPV vaccine (AU)

Acquired epidermodysplasia verruciformis in a renal transplant recipient - Case report

A 24-year-old male patient, who underwent kidney transplant six years ago due to Lupus nephritis, for the last two years presented asymptomatic erythematous scaly plaques on the abdomen and areas exposed to light. Post-transplantation immunosuppressive medications included prednisone, mycophenolate sodium and sirolimus. The histopathologic features were typical for epidermodysplasia verruciformis. Epidermodysplasia verruciformis is a rare autosomal recessive genodermatosis with increased susceptibility to specific strains of cutaneous human papilloma virus. The term ''acquired epidermodysplasia verruciformis'' was recently introduced to the literature and describes epidermodysplasia verruciformis occurring in patients with impaired cell-mediated immunity. We report an additional case associated to immunosuppression after kidney transplantation.

Epidermodysplasia verruciformis in a young man with HIV since birth - case report / Epidermodisplasia verruciforme em um jovem com HIV desde o nascimento - relato de caso

Epidermodysplasia Verruciformis is a genodermatosis characterized by susceptibility to infection by specific HPV types (HPV 3/10 and beta-HPVs). It is considered to be the first model in human carcinogenesis induced by HPV. In this report we present a rare case of Epidermodysplasia Verruciformis associated with vertical transmission of HIV. Although most patients with HIV present infections by HPV virus, the frequency of Epidermodysplasia Verruciformis is no greater in patients with HIV because in EV there is a deficiency of specific cellular immunity to infection by some types of HPV, called HPV-related Epidermodysplasia Verruciformis.

A Epidermodisplasia Verruciforme é uma genodermatose que se caracteriza pela susceptibilidade à infecção por tipos específicos de HPV (HPVs 3 e 10 e os beta-HPVs) e é considerada o primeiro modelo no homem de carcinogênese induzida pelo HPV. Neste artigo apresenta-se um caso raro de Epidermodisplasia Verruciforme em um paciente com HIV desde o nascimento. Apesar dos doentes com HIV apresentarem mais infecções pelos vírus HPVs, existem poucos relatos na literatura de Epidermodisplasia Verruciforme no doente com HIV. Isso se explica, pois a Epidermodisplasia Verruciforme é consequência de uma deficiência celular específica à infecção por alguns tipos distintos de HPVs, ditos HPVs relacionados a Epidermodisplasia Verruciforme.

Experiência discente com o cuidado a paciente portador de Epidermodisplasia Verruciforme / Student experience in providing care to a patient with Epidermodysplasia Verruciformis / Experiencia de estudiantes con el cuidado a paciente con Epidermodisplasia Verruciforme

Relato de experiência de situação vivenciada, em 2009, por acadêmicas de enfermagem, durante estágio da disciplina Enfermagem em Doenças Transmissíveis, na enfermaria de dermatologia de um hospital de ensino do interior paulista, em que cuidaram de um paciente com Epidermodisplasia Verruciforme. Esta é uma genodermatose rara, com susceptibilidade à infecção por diferentes tipos de papiloma vírus humanos, ocasionando alterações físicas exacerbadas e impactando o psiquismo da pessoa acometida. A assistência foi baseada na complexidade assistencial indicada pela aplicação do Sistema de Classificação de Pacientes proposto por Perroca. A experiência proporcionou aprendizado no cuidado a paciente portador de doença rara, complexa e de difícil resolução, possibilitando a necessidade de assisti-lo integralmente, percebendo-o além das lesões. Conclui-se que este tipo de experiência muito contribuiu para o crescimento das acadêmicas como futuras profissionais de enfermagem.

Report of an experience of nursing students in providing care to a patient with epidermodysplasia verruciformis, during the internship in the discipline Nursing in Transmittable Diseases, at the dermatology ward of a teaching hospital, located in the state of São Paulo, Brazil, in 2009. This is a rare genodermatosis, susceptible to infection with different types of human papilloma viruses, that cause exacerbated physical changes that impact the psyche of the affected individual. Care delivery was based on the assistance complexity indicated by the application of the Patient Classification System proposed by Perroca. The experience allowed students to learn how to cope with a patient affected by a rare and complex disease, of difficult resolution, and to provide integral care to this individual, perceiving him beyond the lesions. One conclude that the experience has greatly contributed to the growth of the students as future professionals.

Relato de experiencia vivida por estudiantes de enfermería, en 2009, durante la pasantía de la disciplina de Enfermería en Enfermedades Transmisibles, en la sala de dermatología de un hospital universitario del estado de São Paulo, Brasil, donde cuidarán a uno paciente con Epidermodisplasia Verruciforme. Esta es una genodermatosis rara, con susceptibilidad para la infección por diferentes tipos de virus del papiloma humano, causando cambios físicos exasperados e impacto en la psiquis de la persona afectada. La asistencia esté basada en la complejidad de la atención, segundo la aplicación del Sistema de Clasificación de Pacientes propuesto por Perroca. A experiencia proporciono aprendizaje en el cuidado del paciente con una enfermedad rara, compleja y de difícil cura, dando la posibilidad a las estudiantes de asistirlo integralmente, más allá de las lesiones. Concluye-se que este tipo de experiencia contribuyó para el crecimiento de las estudiantes como futuros profesionales.

Epidermo displasia verruciforme asociado a carcinoma de piel y anexos. Reporte de caso / Dysplasia verruciformis associated epidermolysis a skin carcinoma and annexes. I reported case

Se describe el caso de un paciente varón de 39 años, natural y procedente de Cajamarca, agricultor, sin antecedentes de importancia, evaluado en el Instituto Nacional de Enfermedades Neoplásicas (INEN) con tiempo de enfermedad de 20 años caracterizado por lesiones eritematoescamosas, hiperqueratosicas, hiper e hipopigmentadas en cuello, tórax, abdomen, miembros superiores e inferiores, pabellon auricular izquierdo, cuero cabelludo y región frontal, clínicamente compatibles con Epidermodisplasia Verruciformis.

We describe the case of a male patient aged 39, from and natural of Cajamarca, farmer, no history of importance, which goes to National Institute of Neoplastic Diseases (INEN) with a disease duration of 20 years characterized by erythematous lesions, hyper- keratosis, hyper-and hypopigmented lesions in neck, chest, abdomen, arms and legs, left ear, scalp and frontal region, clinically compatible with epidermodysplasia verruciformis.

Epidermodisplasia verruciforme: reporte de un caso / Epidermodysplasia verruciformis: report of a case

La epidermodisplasia verruciforme (EV) es una genodermatosis rara y hereditaria que ocasiona una susceptibilidad incrementada a infecciones por serotipos espec¡ficas de papilomavirus humano, se manifiesta con lesiones cut neas similares a verrugas planas, pitiriasis versicolor y queratosis seborreicas. Existen dos fenotipos de EY, benigno y maligno, lo cual va a condicionar el pron¢stico de la enfermedad; hasta el momento sigue siendo una condici¢n de dif¡cil manejo que requiere un seguimiento de las lesiones por su riesgo de malignizacion.

Epidermodysplasia verruciformis is a rare, inherited genoderma-tosis resulting in increased susceptibility to infections by specific serotypes of HPY, manifesting with skin lesions similar to flat warts, pityriasis versicolor and seborrheic keratoses. There are two phenotypes, benign and malignant, which will condition the prognosis of the disease so far remains an unwieldy condition that requires monuoring of its risk lesions of malignant.

Epidermodysplasia verruciformis: An unusual malignant transformation.

Epidermodysplasia verruciformis (EV) is a rare, life-long heritable disease caused due to a unique susceptibility to human papilloma virus. The disseminated verrucous lesions and pityriasis versicolor-like lesions persist from early childhood and can transform into a cutaneous malignancy in a fourth of patients. Malignant transformation into syringoid eccrine carcinoma (SEC) has been reported only once so far. SEC is an extremely invasive, rare, locally destructive, slowly growing adnexal tumor. We hereby report the association of EV with SEC in a 29-year-old male.

Epidermodisplasia verruciforme: reporte de una serie de casos / Epidermodysplasia verruciformis: report of a case series

La epidermodisplasia verruciforme es una genodermatosis rara que condiciona una susceptibilidad anormal a infecciones por el virus del papiloma humano, presentando lesiones cutáneas con potencial oncogénico. Objetivo: determinar la frecuencia de epidermodisplasia verruciforme y caracterizas los hallazgos demográficos, clínicos y terapéuticos de los pacientes que acudieron a la Cátedra de Dermatología del Hospital de Clínicas, entre los años 2003, 2012. Material y métodos: se realizó un estudio descriptico de pacientes con diagnóstico clínico e histopatológico de epidermodisplasia verruciforme. Resultados: se encontraron cinco casos. Todos los pacientes iniciaron el cuadro en la infancia y presentaron lesiones tipo pitiriasis versicolor y verrugas planas. Todos refirieron exposición solar crónica y familiares de primer grado con la misma enfermedad. La neoplasia más frecuente fue al enfermedad de Bowen, seguida del carcinoma epidermoide infiltrante. Los tratamientos incluyeron cirugía, crioterapia y 5-fluorouracilo tópico...

Epidermodysplasia verruciformis is a rare genodermatosis characterized by an abnormal susceptibility to human papiloma virus infection, developing cutaneous lesions with oncogenic potential. Objective: To determine the frequency, clinical demographic and therapeutic characteristics of patients who attend to the Dermatology Department of the Hospital de Clinicas between 2003 and 2012. Methods: A descriptive study of patients with clinical and histopathological diagnosis of epidermodysplasia verruciformis was carried out. Results: Five cases were found. Childhood-onset of disease, pityriasis versicolor-like lesions and flat warts were seen in all cases. All patients reported chronic sun exposure and first-degree relatives with the same disease. BowenÆs disease was the most frequent neoplasm, followed by invasive squamous cell carcinoma. Treatment modalities included surgery, cryotherapy and topical 5 fluorouracil. Discussion: Consistently to the infrequent nature of the disease, only five cases were diagnosed in the years. Unlike other studies, BowenÆs disease was the predominant neoplasm...

Epidermodisplasia verruciforme con lesiones similares a pitiriasis versicolor / Epidermodysplasia verruciformis with lesions similar to pityriasis versicolor

La epidermodisplasia verruciforme es una genodermatosis rara de herencia autosómico recesiva caracterizada por la susceptibilidad a la infección por el virus papiloma humano que provoca el inicio temprano de múltiples verrugas planas y lesiones similares a pitiriasis versicolor. Presentamos el caso de un paciente varón de 16 años quién acude a nuestro servicio por presentar máculas hipocrómicas en tórax, cuello y cara como único hallazgo.

Epidermodysplasia verruciformis is a rare genodermatosis of autosomal recessive inheritance characterized by susceptibility to infection by the human papilloma virus which causes early onset of multiple flat warts and pitiriasis versicolor like injures. We report the case of a 16 year old male patient, who came to our department showing hypochromic macules on his chest, neck face area, as the only findings.

Infecciones virales en piel y mucosas / Cutaneous viral diseases

Diversos virus pueden infectar la piel y las mucosas de los seres humanos, manifestándose en diferentes patologías, de acuerdo a la edad, género y estado inmunológico. Un grupo importante de éstos tiene capacidad de replicar en células epiteliales, originando cuadros clínicos en los cuales se evidencia la destrucción celular o bien la hiperplasia del tejido infectado. Gran parte de estos virus persisten en células infectadas por años y tienen la capacidad de reactivarse y de manifestar nuevamente enfermedades cutáneas o mucosas. En algunos casos, ésta sólo se expresa de manera subclínica en una excreción del virus por secreciones que son fuente de infección. En los últimos años, los avances en técnicas moleculares han permitido contar con metodologías diagnósticas cada vez más sensibles, específicas y rápidas. Así como también el progreso en el área de vacunas y antivirales nos entrega mayores herramientas profilácticas y terapéuticas.

Various viruses can infect the skin and the mucous membranes of human beings, manifesting itself in different diseases, according to age, gender and immune status. An important group has the ability to replicate in epithelial cells, causing clinical manifestations which evidenced the cell destruction either infected tissue hyperplasia. Much of these viruses persist in cells infected by years and have the ability to reactivate and again express cutaneous or mucosal diseases. In some cases, it is only asymptomatically shred in secretions that are a source of infection. In recent years, advances in molecular techniques have allowed to have increasingly sensitive, specific and rapid diagnostic methodologies. As well as, the progress in the area of vaccines and antivirals also gives us greater prophylactic and therapeutic tools.

Epidermodisplasia verruciforme: apresentação clínica com variadas formas de lesões / Epidermodysplasia verruciformis: clinical presentation with varied forms of lesions

Epidermodisplasia verruciforme é uma genodermatose rara caracterizada por infecção disseminada por HPV, de caráter recessivo, com casos ligados ao cromossoma X. É caracterizada clinicamente por lesões maculares hipo ou hiperpigmentadas, lesões pitiríase versicolor like, verrugas planas e desenvolvimento precoce de carcinomas cutâneos. Descreve-se um caso de paciente com quadro clínico exuberante, apresentando todas as formas de lesões desta doença, inclusive presença de carcinoma espinocelular agressivo na face.

Epidermodysplasia verruciformis is a rare inherited skin disorder spread by HPV, with cases linked to chromosome X. It is characterized by hypo- or hyper-pigmented macular lesions, pityriasis versicolor-like lesions and an early tendency to develop skin malignancies. We present a case of epidermodysplasia verruciformis with a variety of lesions such as multiple plane warts, pityriasis versicolor-like lesions and aggressive squamous cell carcinoma on the face.

Caso para diagnóstico / Case for diagnosis

Paciente do sexo feminino, parda, de 27 anos de idade, apresentando há três anos, placas hipocrômicas planas, ovaladas, de superfície áspera, no dorso e membros superiores com aspecto que lembrava pitiríase versicolor. Refere história familiar de um irmão cujas lesões são semelhantes. Exames laboratoriais, incluindo anti-hiv, sem alterações e com histopatológico evidenciando queratinócitos, aumentados de volume, com citoplasma basofílico e microvacuolado ocupando a porção superior da camada espinhosa e a granulosa. Após correlação anátomo-clínica, confirmou-se o diagnóstico de epidermodisplasia verruciforme pitiríase versicolor like.

A 27-year-old mixed-raced (pardo) female patient presented with flat ovate hypochromic plaques with a rough surface on the back and upper limbs, with an aspect resembling pityriasis versicolor. She reports family history involving a brother with similar lesions. Lab tests, including anti-HIV, showed no alterations and a histopathological examination showed enlarged keratinocytes with basophilic and microvacuolated cytoplasm occupying the upper portion of the spinous layer and the granulous layer. After anatomic-clinical correlation, the diagnosis of epidermodysplasia verruciformis pityriasis versicolor like was confirmed.

Expressions of CD1a and CD83 of Langerhans cells in the local lesions of epidermodysplasia verruciformis patients / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the expressions of CD1a and CD83 of Langerhans cells (LC) in the lesions of epidermodysplasia verruciformis (EV) patients.</p><p><b>METHODS</b>We used immunohistochemical method to detect the expressions of CD1a and CD83 in the lesions of 10 patients with EV lesions and in the skins of 10 normal subjects.</p><p><b>RESULTS</b>No CD83 + LCs was detected in all EV patients and normal controls, but CD1a + LC was found in all cases. The quantity of CD1a + LCs in the lesions of EV patients was significantly lower than that in the normal skin (P < 0.01); furthermore, the distribution of LCs in EV lesions was uneven.</p><p><b>CONCLUSION</b>The functions of LCs may be inhibited in EV patients.</p>

Pathogenesis of human papillomavirus infection in patients with epidermodysplasia verruciformis / 中国医学科学院学报

Epidermodysplasia verruciformis (EV), a rare inherited disease, is believed to be associated with human papillomavirus (HPV) infection. EVER1/2 genes, dendritic cells, T lymphocytes, and the biological characteristics of HPV itself may play roles in the pathogenesis of HPV infection.

A Case of Epidermodysplasia Verruciformis Associated with Squamous Cell Carcinoma and Actinic Keratosis / 대한피부과학회지

Epidermodysplasia verruciformis is a very rare, chronic disease that's characterized by persistent human papillomavirus infection. This type of lesion may transform into malignant skin tumors, usually after the age of 30 years. We report here on a 33-year-old woman who presented with squamous cell carcinoma and actinic keratosis that developed from epidermodysplasia verruciformis. Her malignant skin lesions were effectively treated by surgical excision, cryotherapy and topical application of imiquimod.

[Epidermodysplasia verruciformis associeted with congenital osseous dysplasia: Fortuitous association or common genetic determinism?]

Epidermodysplasia verruciformis [EV] is a rare recessive autosomal genetic disorder of the immune system characterized by increased susceptibility to cutaneous Human papilloma virus infection. We report a case of an EV associated with a congenital osseous dysplasia and complicated by an epidermoid carcinoma. EV could be associated with others genetics diseases as the chondrodysplasia and the neurofibromatosis. No case has been reported in the literature, associating EV and congenital osseous dysplasia