RESUMO
Epidermodysplasia verruciformis (EV) is a rare cutaneous pre-cancerous condition characterized by presence of flat, scaly macules, verruca-like papillomatous papules, seborrheic keratosis-like lesions, and pink-red pityriasis versicolor-like macules. The disease is caused by abnormal susceptibility to certain specific beta-HPV subtypes, most commonly 5 and 8. Classic EV is genetically determined, but in immunocompromised individuals, an acquired form can occur. Only 48 cases of acquired EV (AEV) in people living with HIV have been described. We describe a case of AEV in a 36-year-old HIV-positive man with an history of stable optimal CD4 cell count and undetectable HIV viral load. The AEV significantly deteriorated after the administration of the second dose of the quadrivalent anti-HPV vaccine and did not improve despite local treatment, anti-HPV vaccination completion, and persistently optimal combined antiretroviral treatment adherence. To the best of our knowledge, this is the first report of an AEV deterioration with a clinical and temporal pattern mimicking an immune reconstitution inflammatory syndrome (IRIS) following anti-HPV vaccination, instead of low CD4 count restoration. After reviewing the current literature, we have hypothesized a vaccine-mediated IRIS-like phenomenon in the pathogenesis of the disease.
Assuntos
Epidermodisplasia Verruciforme , Infecções por HIV , Síndrome Inflamatória da Reconstituição Imune , Adulto , Epidermodisplasia Verruciforme/patologia , Infecções por HIV/complicações , Infecções por HIV/tratamento farmacológico , Humanos , Síndrome Inflamatória da Reconstituição Imune/complicações , Masculino , Papillomaviridae , Vacinação/efeitos adversosRESUMO
One of the most serious complications of advanced melanoma is the diffusion of cancer cells to the central nervous system. The diagnosis of leptomeningeal metastasis (LMM) is notoriously challenging and requires a combination of consistent MRI and cerebrospinal fluid (CSF) cytology. In ambiguous cases, mutations like BRAF V600E in CSF-cell-free (cf)DNA may help to clarify diagnosis of LMM. Here we present the case of a young woman who developed isolated LMM after the diagnosis of a node-positive primary melanoma with normal LDH. The CSF was negative for tumour cells by cytology but positive for cfDNA BRAF V600E mutation, thus allowing us to diagnose LMM. To our knowledge, this is the first case where CSF sampling for the detection of BRAF mutation was used to identify leptomeningeal disease in the presence of negative MRI and without involvement of any other distant sites.
Assuntos
Melanoma/complicações , Carcinomatose Meníngea/etiologia , Neoplasias Cutâneas/complicações , Progressão da Doença , Feminino , Humanos , Masculino , Melanoma/patologia , Carcinomatose Meníngea/fisiopatologia , Segunda Neoplasia Primária , Neoplasias Cutâneas/patologiaRESUMO
INTRODUCTION: pemphigus vulgaris is a rare autoimmune blistering disease that involves the skin and mucous membranes and rarely occurs in pediatric age. METHODS: we present a case of childhood pemphigus in a 9-year-old patient from Burkina Faso, which initially manifested with erosive lesions symmetrically distributed in the oral cavity. After a few months, we also observed hyperchromic lesions of the back. Histopathological examination of skin samples showed intraepidermal acantholysis, while direct immunofluorescence showed deposits of complement (C3) and immunoglobulins G (IgG) in the epidermidis; an ELISA test highlighted the presence of circulating autoantibodies against desmoglein 3. RESULTS: the follow-up of this patient was made difficult by the advent of the COVID-19 outbreak. However, after about one year of combined therapy with systemic steroids and azathioprine the patient reached clinical remission.