Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors. Methods: We collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families worldwide to better characterize the genotypes and phenotypes associated with the BAP1-TPDS. Tumor spectrum and ages of onset were compared between missense and null variants. All statistical tests were two-sided. Results: The 181 families carried 140 unique BAP1 germline variants. The collated data confirmed the core tumor spectrum associated with the BAP1-TPDS and showed that some families carrying missense variants can exhibit this phenotype. A variety of noncore BAP1-TPDS -associated tumors were found in families of variant carriers. Median ages of onset of core tumor types were lower in null than missense variant carriers for all tumors combined (P < .001), mesothelioma (P < .001), cutaneous melanoma (P < .001), and nonmelanoma skin cancer (P < .001).
An exanthem is a skin rash that may be associated with mucous membrane eruption, fever or other symptoms. It may develop as manifestation of an infectious disease or as adverse reaction to drugs. Beside the 'classical exanthems' commonly occurring in childhood, other exanthems, defined as 'atypical' for the different morphology and causal agents, may occur. Among the atypical exanthems with infectious etiology, viral, bacterial, parasitic and helminth infections are implicated. We describe herein etiology and epidemiology of the atypical exanthems caused by infectious agents. In case of exanthem, to make a correct etiological diagnosis is crucial for both the patient and community concerning issues such as time off school, immunizations and risk in pregnancy and immunocompromised individuals.
Pityriasis rosea (PR) is an acute, self-limiting exanthematous disease associated with the endogenous systemic reactivation of human herpesvirus (HHV)-6 and/or HHV-7. The disease typically begins with a single, erythematous plaque followed by a secondary eruption with lesions on the cleavage lines of the trunk (configuration of a ‘Christmas tree'). The duration may vary from 2 weeks to a few months. Besides the typical presentation of PR, atypical forms have been described. The previous classifications of PR are mainly based on its atypical morphological features rather than on the pathogenetic mechanisms that underlie the different presentations of the disease. Notably, most of the morphologically atypical forms follow a course amenable to the classic form. The classification that we propose, taking into account the pathogenesis, clinical features, and course of the disease, is easy and intuitive and may be helpful in identifying the atypical forms of PR in order to avoid misdiagnosis and establish the best treatment options. Finally, this classification provides indications for managing potentially harmful forms of PR (such as PR in pregnancy) and PR-like eruptions.
Cutaneous manifestations during Coronavirus Disease 2019 (COVID‐19) include pityriasis rosea (PR) and PR‐like eruptions 1‐3 . We describe a patient with PR demonstrating that concurrent viral reactivations may occur during COVID‐19. This article is protected by copyright. All rights reserved.
To the Editor, An increasing number of reports have been written regarding cutaneous manifestations during the coronavirus disease-2019 (COVID-19), 1-3 though knowledge of the possible oral manifestations is still poor. This may be due to a lack of intraoral examinations, which may be caused by limited availability of the recommended protective measures and the use of telemedical consultations for SARS-CoV-2 infections. We describe a patient presenting with cutaneous and oral lesions associated with a SARS-CoV-2 infection. A previously healthy 19-year-old woman presented to the Emergency Department with a seven-day history of intermittent fever and sore throat. She had started taking oral cefixime (400 mg per day) 3 days earlier. She also reported a sudden onset of fatigue, hyposmia, and asymptomatic cutaneous and oropharyngeal lesions that started 2 days before admission. On
Worldwide, 500 million people a year acquire a sexually transmitted disease (STD). Adolescents, accounting for 25% of the sexually active population, are the most affected. To analyze sexual behavior among Italian adolescents and their knowledge of STDs, with the goal of preventing their transmission, a questionnaire was administered to 2867 secondary school students (1271 males and 1596 females) aged 14–21 years. For the study, 1492 students were interviewed in Genoa (Northern Italy) and 1375 in Lecce (Southern Italy). For 37% of the respondents, parents and teachers were the main source of information on sex, and 95% believed that school should play the primary role in sex education. However, only 9% considered the sex education they received in school good. Noteworthy, only 0.5% of the teenagers recognized the sexually transmitted diseases from a list of diseases, and 54% of them did not know what a Pap test was. Confusion about the meaning of contraception and prevention was evident; only 22% knew that condoms and abstinence are the only methods for preventing STDs. Finally, a consistent number of students are exposed to risk factors for STDs transmission; e.g., alcohol and recreational drug use, promiscuity and improper condom use. On the basis of our study, there is an urgent need for the introduction of sex education as a proper subject in Italian schools.
Background: Nicotinamide is the precursor of nicotinamide adenine dinucleotide (NAD+), an essential cofactor for adenosine triphosphate (ATP) production. It has recently been reported to be effective in reducing the rates of new non-melanoma skin cancers (NMSCs) and actinic keratosis (AKs). Objectives: We studied the efficacy of oral nicotinamide as treatment for AKs in transplant recipients. Materials & methods: We recruited 38 transplant (eight liver and 30 kidney) patients with single or multiple AKs. Nineteen patients were randomly assigned to Group 1 and took nicotinamide 500 mg/daily (cases); the other 19 patients were randomly assigned to Group 2 without nicotinamide (controls). At baseline, AKs were identified, measured, and photographed for follow-up. Five patients underwent an AK biopsy for histopathology. Statistical analyses were performed using the Student t test. Results: At baseline, no statistically significant differences were observed regarding AK size between the two groups. After six months, among the cases, AKs had significantly decreased in size in 18/19 patients (88%). Among these 18 patients, seven patients (42%) had shown complete clinical regression and no patient developed new AKs. Conversely, among the controls, 91% showed an increase in AK size and/or developed new AKs. Seven pre-existing AKs progressed to squamous-cell carcinoma. Conclusion: Nicotinamide appears to be effective in preventing and treating AKs, although the mechanisms are still unclear. Further studies with a larger sample of organ transplant recipients and a longer follow-up period are needed to further support our conclusions.
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