Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations

Impact of Social Media on Skin Cancer Prevention

Despite the increasing prevalence of social media usage in health care contexts, its impact on skin cancer prevention and awareness has not been largely investigated. We conducted a review of literature on this topic with the objective of summarizing and analyzing the role of social media in skin cancer and sun damage awareness and to identify the uses, benefits, and limitations of different social media platforms on skin cancer prevention. In today’s technological society, it is critical to understand and study the best form of communication. Specific platforms like Instagram, Twitter, Facebook, YouTube, and TikTok vary in originators of material, target demographics, messaging strategies, and reliability of information with regards to skin cancer, sun, and indoor tanning damage. Our results demonstrate that social media interventions have shown promise in skin cancer prevention and continue to escalate by the day. Dermatologists should keep pace with the latest dermatological content on social media and examine its evolution to target the right audience with the proper messages. Further research is needed to evaluate the effectiveness and true impact of social media on meaningful and lasting behavior change for skin cancer prevention

Leptomeningeal Enhancement due to Neurosarcoidosis Mimicking Malignancy

The present report describes the case of a 56-year-old African American man experiencing progressive disequilibrium, lower extremity weakness, difficulty walking, and hearing loss. Brain magnetic resonance imaging showed leptomeningeal enhancement. Initial differential diagnosis was broad, including malignant, infectious, and inflammatory etiologies. The cerebrospinal fluid analyses demonstrated lymphocytic pleocytosis, hypoglycorrhachia, and hyperproteinorrachia but no other abnormalities. An extensive infectious disease workup was negative. Positron emission tomography revealed hypermetabolic lymph nodes in the right mediastinum and right hilum, correlating with findings on endobronchial ultrasonography. Subsequently, image-guided fine-needle aspiration of the right upper paratracheal lymph node was performed, and biopsy studies showed noncaseating granulomatous inflammation. Based on the clinical picture, the diagnosis of neurosarcoidosis was made, and high-dose steroids were started and resulted in significant improvement

Pityriasis Lichenoides et Varioliformis Acuta as a Complication of COVID-19 Infection

Pityriasis lichenoides is an acute and/or chronic skin disease associated with recurrent erythematous papules that self-resolve. While its etiology is unknown, preceding viral infection may play a role. We present an atypical case of a 40-year-old woman with pityriasis lichenoides et varioliformis acuta as a complication of a COVID-19 infection

Gender Representation in Authorship of Academic Dermatology Publications During the COVID-19 Pandemic: Cross-Sectional Study.

Analyses of women dermatology literature authorship from 2018 to 2022 reveal a slight increase in total female authors, female first authors, and female senior authors with no substantial immediate impact of COVID-19 on current trends, encouraging future examination of long-term effects and ongoing promotion of systemic initiatives to support gender equity