RESUMO
Serine/threonine kinase 4 deficiency (STK4 or MST1, OMIM:614868) is an autosomal recessive (AR) combined immunodeficiency that can present with skin lesions such as epidermodysplasia verruciformis-like lesions (EVLL). Herein, we describe a 17-year-old male patient born from consanguineous parents presenting with recurrent respiratory infections, verruciform plaques, poikiloderma, chronic benign lymphoproliferation, and Sjögren syndrome with suspected interstitial lymphocytic pneumonia.
Assuntos
Epidermodisplasia Verruciforme , Doenças da Imunodeficiência Primária , Dermatopatias , Masculino , Humanos , Adolescente , Epidermodisplasia Verruciforme/diagnóstico , Epidermodisplasia Verruciforme/genética , Epidermodisplasia Verruciforme/patologia , Papillomaviridae , Doenças da Imunodeficiência Primária/diagnóstico , Proteínas Serina-Treonina Quinases , Peptídeos e Proteínas de Sinalização IntracelularAssuntos
Carcinoma de Células Escamosas , Epidermodisplasia Verruciforme , Neoplasias Cutâneas , Humanos , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/genética , Epidermodisplasia Verruciforme/diagnóstico , Epidermodisplasia Verruciforme/genética , Epidermodisplasia Verruciforme/patologia , Proteínas de Membrana/genética , Mutação , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologiaAssuntos
Carcinoma de Células Escamosas , Epidermodisplasia Verruciforme , Neoplasias Cutâneas , Humanos , Epidermodisplasia Verruciforme/diagnóstico , Epidermodisplasia Verruciforme/genética , Epidermodisplasia Verruciforme/patologia , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Mutação , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Proteínas de Membrana/genéticaRESUMO
Acquired epidermodysplasia verruciformis (AEV) is a form of epidermodysplasia verruciformis (EV) that is most commonly found in immunocompromised or immunosuppressed patients. EV is commonly associated with human papillomavirus (HPV), which is often found in EV and AEV lesions. Clinical presentation of AEV in patients with organ transplantation, HIV+, congenital HIV+, hematological diseases, and other iatrogenic immunosuppression are reviewed. Treatment options include topical cidofovir, topical retinoids, topical imiquimod, topical glycolic acid, HPV 9-valent vaccine, acitretin, improving cellular immunity, and changing transplant medication to mycophenolate mofetil.
Assuntos
Epidermodisplasia Verruciforme , Infecções por HIV , Infecções por Papillomavirus , Vacinas , Acitretina/uso terapêutico , Cidofovir/uso terapêutico , Epidermodisplasia Verruciforme/diagnóstico , Epidermodisplasia Verruciforme/tratamento farmacológico , Infecções por HIV/complicações , Humanos , Imiquimode/uso terapêutico , Ácido Micofenólico/uso terapêutico , Papillomaviridae , Infecções por Papillomavirus/complicações , Vacinas/uso terapêuticoRESUMO
Few articles have described the difference between epidermodysplasia verruciformis (EV) and generalized verrucosis (GV). This study aimed to analyze the clinical findings and virology of the two diseases. The study enrolled patients diagnosed with EV and GV by clinical and histopathological findings. The demographic information, clinical manifestation, treatment, and therapeutic outcome were analyzed. All of the biopsy specimens of enrolled patients were sent for ß-human papillomavirus (HPV) DNA detection. A total of 13 cases were included in the present study, including five EV cases and eight GV cases. Legs and feet were significantly affected in GV cases (p = 0.035). All acquired EV cases had immunocompromised conditions, while only three GV cases could be identified as having an immunocompromised history. All EV cases were detected with ß-HPV infection, especially HPV5, but none of the GV cases were found to be infected with ß-HPV. The therapeutic response was refractory and often relapsed after discontinuation of treatment in both groups.
Assuntos
Epidermodisplasia Verruciforme , Infecções por Papillomavirus , Epidermodisplasia Verruciforme/diagnóstico , Epidermodisplasia Verruciforme/terapia , Humanos , Hospedeiro Imunocomprometido , Papillomaviridae , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/diagnósticoRESUMO
ABSTRACT: Epidermodysplasia verruciformis (EV) is a rare dermatologic condition that is clinically characterized by flat, cutaneous, verrucous papules, pityriasis versicolor-like lesions, and similar lichenoid papules. There are 2 forms of EV: a classic inherited genodermatosis and a secondary acquired form. EV predisposes individuals to infections with certain types of human papillomavirus virus and subsequently increases the risk of cutaneous squamous cell carcinoma. The acquired form occurs in immunosuppressed patients, particularly in patients infected with HIV; however, it has also been described in patients who have undergone stem cell and solid organ transplantation. We report an additional case of renal transplantation and immunosuppressive therapy-associated acquired EV (AEV) in a 78-year-old man with multiple flesh-colored to violaceous, flat-topped papules distributed on the face and trunk clinically mimicking lichen planus. Biopsy was typical for that of EV, demonstrating enlarged keratinocytes with a blue-gray cytoplasm, a thickened granular layer, acanthosis, and hyperkeratosis. Herein, we discuss an unusual presentation of an AEV-mimicking lichen planus with review of the literature.