Search

CIC::DUX4 fusion sarcoma represents a rare and aggressive subtype of undifferentiated small round blue cell tumors. We report on a 23-year-old African male who developed a rapidly enlarging inferolateral left buttock nodule with ulceration. After debulking excision of the lesion, histologic sections demonstrated sheets and lobules of atypical round blue cells with significant cytologic atypia. Prominent foci of atypical mitotic figures and tissue necrosis were present. Tumoral cells stained strongly and diffusely using MDM2, vimentin, WT1 and CD99 immunohistochemical (IHC) markers. Molecular testing was performed and highlighted CIC::DUX4 gene fusion positivity, making the diagnosis of a CIC::DUX4 sarcoma (CDS). Post-surgical excision, the patient showed no disease on imaging and underwent five cycles of adjuvant chemotherapy with no recurrence observed at the eight-month follow-up. With fewer than 200 cases reported in the literature and somewhat nonspecific clinicopathologic characteristics, CIC::DUX4 sarcoma presents a diagnostic challenge. This case underlines the importance of molecular diagnostics in undifferentiated sarcomas and presents a rare primary cutaneous manifestation of CIC::DUX4 fusion sarcoma. Additionally, we provide a review of the literature to aid in recognition, diagnosis, and treatment of this rare entity., (© 2024 The Author(s). Journal of Cutaneous Pathology published by John Wiley & Sons Ltd.)

Geothermal features, such as hot springs and mud volcanoes, host diverse microbial life, including many extremophile organisms. The physicochemical parameters of the geothermal feature, such as temperature, pH, and heavy metal concentration, can influence the alpha and beta diversity of microbial life in these environments, as can spatiotemporal differences between sites and sampling. In this study, water and sediment samples were collected and analyzed from eight geothermal sites at Yellowstone National Park, including six hot springs, a mud volcano, and an acidic lake within the same week in July 2019, and these geothermal sites varied greatly in their temperature, pH, and chemical composition. All samples were processed and analyzed with the same methodology and taxonomic profiles and alpha and beta diversity metrics determined with 16S rRNA sequencing. These microbial diversity results were then analyzed with respect to pH, temperature, and chemical composition of the geothermal features. Results indicated that predominant microbial species varied greatly depending on the physicochemical composition of the geothermal site, with decreases in pH and increases in dissolved heavy metals in the water corresponding to decreases in alpha diversity, especially in the sediment samples. Similarly, sites with acidic pH values had more similar microbial populations (beta diversity) to one another than to relatively neutral or alkaline pH geothermal sites. This study suggests that pH and/or heavy metal concentration is a more important driver for microbial diversity and population profile than the temperature for these sites and is also the first reported microbial diversity study for multiple geothermal sites in Yellowstone National Park, including the relatively new mud volcano Black Dragon's Caldron, which erupted in 1948., Competing Interests: SD was employed by Molecular Research LP (MR DNA Lab). The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Rowe, Dowd, Davidson, Kovarik, VanAken, Jarabek and Taylor.)

Competing Interests: None disclosed.

Background: An understanding of the prevalence patterns of skin diseases in children in Botswana is needed to guide national dermatological policy development, training, and resource allocation to improve patient care., Objective: To describe local skin disease patterns in children aged 0-18 years presenting for dermatologic care in Botswana., Methods: A retrospective review of records from 1st January 2011 to 31st December 2016 was conducted at the outpatient dermatology clinic of Princess Marina Hospital (PMH) in Gaborone, Botswana and outreach clinic sites., Results: There were 4413 pediatric visits constituting 18.6% of all dermatology visits. There was a slight male predominance of 1.2:1. The majority of disorders were noninfectious 80.1% (3537/4413) versus infectious 14.6% (645/4413), with 5.2% (231/4413) unclassified. In the noninfectious category, two-thirds were inflammatory, followed by disorders of nails, skin appendages, and pigmentary disorders. Atopic dermatitis was the most common inflammatory disorder. Over half of infectious skin diseases were viral, followed by fungal and bacterial disorders. In the HIV-related disorders, the majority were verrucae 94% (108/115) followed by Kaposi sarcoma. The nine most common skin diagnoses accounted for close to 70% of all skin diseases seen at the clinic, and these included atopic dermatitis (almost half of all cases), followed by verruca, acne, and vitiligo., Conclusion: There is a high burden of skin disorders in children in Botswana. In our cohort, a small number of skin conditions made up the vast majority of pediatric diagnoses. This information can be used to guide dermatology training and resource allocation to better manage these common diseases., (© 2022 Wiley Periodicals LLC.)

Abstract: Cutaneous ganglioneuromas (GNs) are exceptionally uncommon tumors, and many reported cases describe association with overlying epidermal hyperplasia that may be interpreted as seborrheic keratosis (SK) or SK-like proliferation. We report 5 cases of cutaneous GN in adult patients; all of which were discovered incidentally in the immediate vicinity of epidermal hyperplasia. A review of the literature demonstrates the current-although likely imperfect-understanding of the etiopathogenesis of both SK and GN in the skin. We explore the putative pathophysiologies of other common, well-characterized skin lesions and, taking them into account, provide rationale for the coexistence of cutaneous GN with overlying SK and SK-like epidermal changes. However, we ultimately acknowledge a dilemma of causality and, given the rarity of their co-occurrence, objectively question whether occasional cameo appearances by GN lying subjacent to SK and SK-like hyperplasia may be due merely to chance., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: In emerging market countries in sub-Saharan Africa, access to specialty services such as dermatology is limited. Teledermatology is an innovative solution to address this issue; however, many initiatives have been tried without sustained success. Recently, WhatsApp has been used as a store-and-forward telemedicine communication platform for consultation and education in Botswana., Objective: This study aims to describe the utilization of WhatsApp for teledermatology and the satisfaction levels of participating providers., Methods: A 2-part pilot study was conducted. First, a retrospective review was performed of WhatsApp communications received by participating dermatologists in Gaborone, Botswana, from January 2016 to December 2019. Sender information, patient demographics and history, response time, diagnoses made, and follow-up recommendations were collected. Second, a 12-question cross-sectional survey was distributed to health care providers who utilized WhatsApp for teledermatology during this period. Descriptive statistics were then performed., Results: There were 811 communication threads over the study period. The majority (503/811, 62%) of communications were consultations from providers inquiring about a specific patient, followed by multidisciplinary care coordination communications (90/811, 11%). Our in-depth analysis focused on the former. In 323 (64%) provider consultations, dermatologists responded within 1 hour. A diagnosis was made in 274 (55%) consultations. Dermatologists gave treatment recommendations remotely in 281 (56%) consultations and recommended an in-person dermatology visit in 163 (32%). Of the 150 health care providers surveyed, 23 (15%) responded. All respondents (100%) felt that there was a need for teledermatology and improved teledermatology education in Botswana. Moreover, 17 (74%) respondents strongly felt that the guidance received via WhatsApp was high quality, and 22 (96%) were satisfied with WhatsApp as a platform for teledermatology., Conclusions: This retrospective review and survey demonstrated that WhatsApp is a quick, well-received, and sustainable method of communication between dermatologists and providers across Botswana. The app may offer a solution to the challenges providers face in accessing specialty referral systems, point-of-care education, and medical decision-making support for complex dermatologic cases in Botswana. The information gained from this pilot study can serve as the basis for future telemedicine studies to improve the implementation of teledermatology in Botswana and other resource-limited countries., (©Erika Koh, Abena Maranga, Tshepo Yane, Kagiso Ndlovu, Bwanali Jereni, Maitseo Kuno Nwako-Mohamadi, Carrie Kovarik, Amy Forrestel, Victoria L Williams. Originally published in JMIR Dermatology (http://derma.jmir.org), 27.07.2022.)

Competing Interests: Conflicts of interest Dr Chong is an investigator for Daavlin Corporation, Biogen Incorporated, and Pfizer Incorporated. He is a consultant for Celgene Corporation, Viela Bio, Bristol Meyers Squibb, EMD Serono, and Principia Biopharma. Dr Wan has received research funding from Pfizer, Inc, paid to the University of Pennsylvania. Dr Arkin has received research equipment from Candela, serves as an investigator for Celgene Corporation, and serves as a consultant to Regeneron and Amgen. Drs Brown, Shields, Mir, Hynan, and Kovarik and authors Srivastava and Welsh have no conflicts of interest to declare.

Histoplasmosis is an uncommon opportunistic infection in human immunodeficiency virus (HIV) positive children. The most common form is primary disseminated histoplasmosis, characterized by persistent fever and failure to thrive. A 10-year-old HIV positive girl presented to the Baylor College of Medicine Children's Foundation-Tanzania Mbeya Center of Excellence (COE) with ulcerated skin lesions and a violaceous facial rash. She also had persistent fevers, severe acute malnutrition, and severe anemia. At diagnosis, the patient was failing first line antiretroviral therapy (ART) with a cluster of differentiation 4 immune cells (CD4) of 24 cells/µL and an HIV viral load (VL) of 196,658 cp/mL. The patient was changed to a second line ART regimen (abacavir, lamivudine, and ritonavir-boosted lopinavir) and received nutritional support, blood transfusions, multiple antibiotics, and meticulous wound care. She also received comprehensive symptom management, psychosocial support, and emergency housing through the COE's palliative care program. Biopsy of a lesion showed intracytoplasmic organisms consistent with Histoplasmosis capsulatum var capsulatum. The patient was treated with conventional amphotericin B and oral itraconazole and she achieved wound healing as well as immune reconstitution and HIV viral suppression. Amphotericin infusions were given as an outpatient despite the resource constraints of the setting in southwestern Tanzania. Histoplasmosis should be considered in the differential diagnosis of the immunocompromised host with unusual skin manifestations and persistent fever.

Compulsory drug detoxification treatment (CDT) is currently the major drug rehabilitation modality in China, and drug users often suffer from extraordinary levels of stress during CDT, leading to a high prevalence of anxiety symptoms. This study assesses anxiety symptoms of the drug users undergoing CDT and explores the associated factors. A cross-sectional study with cluster sampling was conducted in three cities in Liaoning Province of Northeast China. Nine hundred CDT drug users were interviewed face-to-face with Chinese questionnaires. Hierarchical multiple regression (HMR) analysis was conducted to explore the factors associated with anxiety symptoms. The prevalence of anxiety symptoms among the CDT drug users was substantially high (33.2%). HMR analysis indicated perceived stress and characteristics of drug use such as types of drugs, were the most important contributors to anxiety symptoms. Optimism (LOT-R) played a protective role in reducing anxiety symptoms in this population. Anxiety symptoms of drug users undergoing CDT were present in a significant proportion of the CDT population. Optimism is a protective factor which could attenuate the detrimental effects of perceived stress on anxiety symptoms and potentially improve treatment outcomes., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Yang, Kovarik, Wang and Yu.)

The authors reviewed outpatients in a tertiary dermatology clinic in Botswana to expand knowledge on patterns of skin disease in this population with a high prevalence of human immunodeficiency virus (HIV). Approximately one-third of new and follow-up patients were HIV positive. Common dermatologic conditions included eczematous eruptions, viral and fungal infections, malignant neoplasms, vascular disorders, disorders of pigmentation, and mechanical/physical injury-related disorders. HIV has impacted patterns of dermatologic disease in Botswana, with Kaposi sarcoma being the most frequently biopsied condition. Given the shortage of dermatology specialists, resources should be allocated toward education and management of these most prevalent skin conditions., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: Coronavirus disease 2019 (COVID-19) has associated cutaneous manifestations., Objective: To characterize the diversity of cutaneous manifestations of COVID-19 and facilitate understanding of the underlying pathophysiology., Methods: Case series from an international registry from the American Academy of Dermatology and International League of Dermatological Societies., Results: The registry collected 716 cases of new-onset dermatologic symptoms in patients with confirmed/suspected COVID-19. Of the 171 patients in the registry with laboratory-confirmed COVID-19, the most common morphologies were morbilliform (22%), pernio-like (18%), urticarial (16%), macular erythema (13%), vesicular (11%), papulosquamous (9.9%), and retiform purpura (6.4%). Pernio-like lesions were common in patients with mild disease, whereas retiform purpura presented exclusively in ill, hospitalized patients., Limitations: We cannot estimate incidence or prevalence. Confirmation bias is possible., Conclusions: This study highlights the array of cutaneous manifestations associated with COVID-19. Many morphologies were nonspecific, whereas others may provide insight into potential immune or inflammatory pathways in COVID-19 pathophysiology., (Copyright © 2020 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

Background: People with albinism (PWA) are at increased risk of photodamage and skin cancer. In many parts of Africa, there is a significant lack of knowledge regarding albinism which can lead to societal stigma, discrimination, and persecution from an early age. In the Democratic Republic of Congo (DRC), there is limited clinical data on PWA and skin cancer. We aim to better understand sociodemographics, risk factors, clinical features, and outcomes of this population., Methods: Patients with a diagnosis of albinism and skin cancer presenting to Kisangani Albino Clinic were enrolled., Results: Of 205 PWA, 61 patients were diagnosed with skin cancer with a mean age of 26.5 years. Common occupations were student (45.6%) or unemployed (26.4%). Discrimination was experienced from close contacts (24.4%) and society (67.4%). A majority (88.5%) had never used sunscreen, only 4.9% used fully sun protective clothing, and 90.2% spent 4 or more hours in the sun daily. Skin cancers had a mean size of 3.8 cm and were most commonly located on the face (47.7%). Squamous cell carcinoma was the most common histopathological diagnosis. Most patients underwent excision, and 90.2% had clinical clearance of tumors at a mean follow-up of 5.7 months., Conclusion: People living with albinism in the DRC experience a high rate of nonmelanoma skin cancers at a young age and additionally face a number of psychosocial challenges. This study represents the first attempt to analyze a cohort of patients with albinism from the DRC and serves to increase awareness of this vulnerable population., (© 2020 the International Society of Dermatology.)

Background: Increasing evidence suggests pernio-like lesions are cutaneous manifestations of coronavirus infectious disease 2019 (COVID-19)., Objective: To describe clinical and pathologic findings of pernio-like lesions in patients with confirmed or suspected COVID-19., Methods: An international dermatology registry was circulated to health care providers worldwide through the American Academy of Dermatology, International League of Dermatologic Societies, and other organizations., Results: We documented 505 patients with dermatologic manifestations associated with COVID-19, including 318 (63%) with pernio-like lesions. Patients with pernio-like lesions were generally young and healthy, with relatively mild COVID-19. Of 318 patients with confirmed or suspected COVID-19 by providers, 23 (7%) were laboratory-confirmed COVID-19 positive, and 20 others (6%) were close contacts of patients with confirmed COVID-19. Given current testing criteria, many patients lacked COVID-19 testing access. For 55% of patients, pernio-like lesions were their only symptom. In patients with other COVID-19 symptoms, pernio-like lesions typically appeared after other symptoms. Pernio-like lesions lasted a median of 14 days (interquartile range, 10-21 days)., Limitations: A case series cannot estimate population-level incidence or prevalence. In addition, there may be confirmation bias in reporting. We cannot exclude an epiphenomenon., Conclusions: Pernio-like skin changes of the feet and hands, without another explanation, may suggest COVID-19 infection and should prompt confirmatory testing., (Copyright © 2020 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

New modalities of evaluating histopathology, such as whole-slide imaging, have been validated in the field of dermatopathology but are often unfeasible and unavailable in developing countries. Widely available across the globe, mobile phone camera technology represents a potential simple and inexpensive method of imaging histologic slides through the use of a mobile phone camera microscope adaptor. This study aims to validate the use of a commercially available adaptor in the diagnosis of inflammatory and infectious conditions in dermatopathology. Representative images were taken of slides for fifty-four cases using the adaptor and shared through a cloud-based platform with five dermatopathologists who rendered diagnoses and judged the quality of the images. After a washout period of 8 weeks, the same cases were assessed by the same dermatopathologists using the original glass slides. The intraobserver concordance rate was 93.3%, and the quality of the mobile phone images was rated as "excellent" or "diagnostic" in 94.4% of the cases. This study validates the use of this low-tech and low-cost adaptor as a reliable tool in teledermatopathology. Limitations of the study include those inherent to use of the adaptor and the limited panel of diagnoses. The primary value of this device may be in developing countries, but its practicality and ease of use lend itself to use in academic and consultative settings in the developed world as well.

Background: Primary cutaneous lymphoma (PCL) represents a heterogeneous collection of non-Hodgkin lymphomas originating in the skin. Our study describes the clinical and histological findings of cutaneous lymphoma within Botswana to expand the paucity of data on this rare disease in sub-Saharan Africa., Methods: We conducted a retrospective review from the dermatology clinic at Princess Marina Hospital (Gaborone, Botswana) of patients evaluated by skin biopsy for cutaneous lymphoma between 2008 and 2017. Patients with initial diagnostic suspicion for cutaneous lymphoma had biopsies re-reviewed by experienced dermatopathologists and were given a final diagnosis of either (i) cutaneous lymphoma, (ii) atypical lymphocytic infiltrate (ALI), or (iii) a reactive cutaneous process., Results: Thirty-eight cases were identified with a mean age of 50.0 years and a male:female (M:F) ratio of 13:6. Final diagnoses included: 27 cases of cutaneous lymphoma, eight cases of ALI, and three cases of reactive cutaneous processes. Subtypes of cutaneous lymphoma diagnosed included: mycosis fungoides (MF) (81.5%), plasmablastic lymphoma (7.4%), Epstein-Barr virus-positive T-cell lymphoma (3.7%), subcutaneous panniculitis-like T-cell lymphoma (3.7%), and peripheral T-cell lymphoma, not otherwise specified (3.7%). The most common immunohistochemical staining profile in MF cases was CD8 predominance over CD4., Conclusions: Primary cutaneous lymphoma causes significant morbidity and mortality globally. Given the limited resources in sub-Saharan Africa, it is essential to educate providers on the manifestations and histology of PCL. This study is an important step towards understanding the demographics, clinical presentation, histologic features, and mortality of patients diagnosed with PCL in Botswana and similar low-resource settings., (© 2019 The International Society of Dermatology.)

Purpose: Child eye health is a significant public health issue in low- and middle-income countries, such as Botswana, and the need for eye care requires a well-integrated and innovative approach. Traditional vision screening tools are costly, difficult to transport, and reliant on highly trained eye care professionals. Novel smartphone-based vision screening technologies, however, are low cost, portable, and easily operated by trained novice users. Peek Vision is a mobile health (m-Health) organization that creates smartphone applications that screen for visual acuity, generate referrals to eye care professionals, and send phone notifications to those being screened. Methodology: In 2016, the government of Botswana partnered with local and international stakeholders to implement Peek vision screening in a subset of schoolchildren. From June to December of 2016, teachers, health assistants, nurses, and other volunteers in 49 schools in the Goodhope Subdistrict utilized Peek applications to screen schoolchildren, using acuity <6/12 in the better eye as a threshold for visual impairment. Results: Among 12,877 children screened, the application identified 16% (2,065/12,877) as screening positive for visual impairment, and these students were referred for optometric care. Ultimately, 96% (1,985/2,065) attended optometry triage camps, during which 42% (835/1,985) were provided with spectacles, 5% (94/1,985) received ophthalmic medications, and 3% (63/1,985) were referred for ophthalmic care. These findings underscore the need for comprehensive vision screening in schoolchildren in Botswana. Furthermore, the successful implementation of Peek smartphone applications illustrates the potential of m-Health technology for enacting comprehensive vision screening programs at a national level in Botswana and other similar countries.

Most infantile hemangiomas (IHs), the most common vascular tumors of childhood, evolve without complications; however 10% to 12% require specialty referral for treatment. To emphasize the complications of late referral, we present a case of necrotizing infection within a segmental IH leading to sepsis. Early evaluation by a pediatric dermatologist could have prevented this life-threatening and disfiguring complication. We discuss how teledermatology would enable rapid triage of such critical cases in underserved areas, increasing access to high-value care and optimizing outcomes for our most vulnerable patients.

Background: Enabling personal mobile device use through a bring-your-own device (BYOD) policy can potentially save significant costs for medical schools and healthcare facilities, as they would not always have to acquire facility-owned devices. The BYOD policy is also perceived as a driver for balancing user needs for convenience with institutional needs for security. However, there seems to be a paucity in the literature on BYOD policy development, policy evaluation, and evaluation of mobile device implementation projects., Objective: This review explored the literature to identify BYOD policy components (issues, interventions, and guidelines) that could potentially inform BYOD policy development and implementation in medical schools and healthcare facilities., Methods: A literature search on PubMed, Web of Science, and Ebscohost (Academic Search Premier, ERIC, CINAHL, and MEDLINE) was conducted using the following search terms and their synonyms: healthcare facilities, mobile devices, BYOD, privacy and confidentiality, and health records. We developed a review matrix to capture the main aspects of each article and coded the matrix for emerging themes. The database and hand search yielded 1 594 articles, 14 of which were deemed as meeting the inclusion criteria., Results: Several themes emerging from the analysis include: device management, data security, medical applications, information technology, education and/or curriculum, policy, and guidelines. The guidelines theme seems to provide a direction for BYOD policy development and implementation while the policy theme seems to be the comprehensive solution that synergizes BYOD implementation., Conclusion: Rather than an approach of 'chasing' issues with interventions, a more feasible approach towards achieving a safe mobile device use environment is through the development of comprehensive BYOD policies that would balance users' need for convenience with organizational security and patient privacy. The paucity in peer-reviewed literature calls for robust research that uses socio-technical approaches to development and evaluation of BYOD policies in medical schools and healthcare facilities., (Copyright © 2018 Elsevier B.V. All rights reserved.)