Atypical Spitz tumor with SQSTM1::NTRK2 fusion: Report of a case with unique spindled cell features.

A host of signature genetic alterations have been demonstrated in Spitz neoplasms, most notably fusions of kinase genes (including BRAF, ALK, ROS1, NTRK1, NTRK3, RET, MET, MAP3K8) or variants in HRAS. While there are multiple reports of rearrangements involving NTRK1 and NTRK3 in Spitz tumors, there are very few reports of NTRK2-rearranged Spitz nevi in the literature. This report presents an NTRK2-rearranged atypical Spitz tumor with spindled cell features. The patient was a 6-year-old female with a growing pigmented papule on the back. Histopathological evaluation revealed an asymmetric, biphasic, compound proliferation of melanocytes featuring an epithelioid cell population arranged as variably sized nests and single cells along the basal layer with extension down adnexa, as well as a population of spindled melanocytes with desmoplastic features and loss of Melan-A expression in the dermis. There was partial loss of p16 expression in the epidermal component and diffuse loss in the dermal component. Immunohistochemistry for PRAME, ALK, NTRK1, HRAS Q61R, p53, and BRAF V600E were negative. A SQSTM1::NTRK2 fusion was identified by RNA sequencing. No TERT promoter hotspot variants were detected. This case report expands the known histopathologic spectrum of genetic alterations in Spitz neoplasms.

Eosinophilic Annular Erythema Responding to Doxycycline.

Eosinophilic annular erythema (EAE) is a rare skin disease characterized by relapsing and remitting pruritic, annular erythematous plaques and tissue eosinophilia. A 39-year-old male presented with a mildly pruritic, relapsing, and remitting urticarial rash. A biopsy revealed superficial and deep perivascular dermatitis with numerous eosinophils and some neutrophils, with an absence of flame figures. Based on clinical and histopathologic findings, the patient was given a diagnosis of eosinophilic annular erythema. Treatment was initiated with doxycycline 100 mg twice daily. The patient reported substantial improvement at three months and sustained clearance at one year, remaining on doxycycline well tolerated throughout. To our knowledge, no cases of EAE improving with doxycycline have been reported in the literature and, thus, our findings highlight a potential new therapy to consider in a patient with EAE.

Development of a Semi-Quantitative Food-Frequency Questionnaire for Korean Adults with Obesity.

The increasing prevalence of obesity is a serious concern in Korea. However, there is currently no available food-frequency questionnaire (FFQ) for examining the dietary patterns of adults with obesity. This study aimed to develop a semi-quantitative FFQ tailored to Korean adults with obesity. The dish/food items for the FFQ were extracted from the 24 h recall data of 8450 Korean adults (aged 19-64 years) with obesity who participated in the 2013-2019 Korea National Health and Nutrition Examination Survey. Among the 1709 dishes consumed, 475 were selected based on their high contribution to the intake or substantial between-individual variation in 11 nutrients: energy, carbohydrates, dietary fiber, sugar, fat, saturated fat, protein, sodium, vitamin A, vitamin E, and flavonoids. These dishes were subsequently categorized into 129 items based on their recipes and primary ingredients. The final 129 items included rice; noodles and dumplings; breads, rice cakes, and cereals; soups and stews; eggs, pulses, meat, and fish; vegetables and kimchi; fruit; snacks; beverages; milk/dairy products; alcohol; and water. The response options for intake frequency comprised nine options, and the intake amount response included three options (50%, 100%, and 150-200% of the standard intake). After validation, this FFQ is expected to be used in epidemiological studies to investigate the dietary patterns of Korean adults with obesity.

Observational cohort study to validate SEARCH, a novel hierarchical algorithm to define long-term outcomes after pulmonary embolism.

BACKGROUND: Chronic dyspnoea and exercise impairment are common after acute pulmonary embolism (PE) but are not defined and quantified sufficiently to serve as outcomes in clinical trials. The planned project will clinically validate a novel method to determine discrete, clinically meaningful diagnoses after acute PE. The method uses an algorithm entitled SEARCH, for symptom screen, exercise testing, arterial perfusion, resting echocardiography, confirmatory imaging and haemodynamic measurements. SEARCH is a stepwise algorithm that sorts patients by a hierarchical series of dichotomous tests into discreet categories of long-term outcomes after PE: asymptomatic, post-PE deconditioning, symptoms from other causes, chronic thromboembolism with ventilatory inefficiency, chronic thromboembolism with small stroke volume augmentation, chronic thromboembolic disease and chronic thromboembolic pulmonary hypertension. METHODS: The project will test the inter-rater reliability of the SEARCH algorithm by determining whether it will yield concordant post-PE diagnoses when six independent reviewers review the same diagnostic data on 150 patients evaluated at two time points after PE. The project will also determine whether the post-PE diagnoses are stable, according to the SEARCH algorithm, between the first evaluation and the subsequent one 6 months later. IMPLICATIONS: Validation of the SEARCH algorithm would offer clinicians a straightforward method to diagnose post-PE conditions that are rarely distinguished clinically. Their categorisation and definition will allow post-PE conditions to be used as endpoints in clinical trials of acute PE treatment. TRIAL REGISTRATION NUMBER: NCT05568927.

Nonsebaceous lymphadenoma arising as a painless subcutaneous nodule on the eyebrow.

Salivary gland tumors can rarely present in skin excision specimens and can pose a diagnostic challenge to dermatopathologists. We present an exceptional case of a salivary gland type nonsebaceous lymphadenoma presenting as a painless subcutaneous nodule on the right medial eyebrow of a 16-year-old male, mimicking a primary cutaneous adnexal neoplasm. Histologic evaluation revealed a well-circumscribed to partially encapsulated nodule with a marked lymphoid infiltrate including reactive germinal centers. Within the lymphoid component was a central epithelial cystic neoplasm with tubuloglandular and basaloid differentiation. There was no myoepithelial component to suggest a chondroid syringoma. No sebaceous differentiation was present. The overall histopathological and immunohistochemical findings were consistent with a nonsebaceous lymphadenoma. Dermatopathologists should consider salivary gland type lymphadenoma as a differential diagnosis when encountering a subcutaneous lesion with lymphoid, cystic, glandular, and basaloid components.

Society for Cardiovascular Magnetic Resonance 2020 Case of the Week series.

The Society for Cardiovascular Magnetic Resonance (SCMR) is an international society focused on the research, education, and clinical application of cardiovascular magnetic resonance (CMR). Case of the week is a case series hosted on the SCMR website ( https://www.scmr.org ) that demonstrates the utility and importance of CMR in the clinical diagnosis and management of cardiovascular disease. Each case consists of the clinical presentation and a discussion of the condition and the role of CMR in diagnosis and guiding clinical management. The cases are all instructive and helpful in the approach to patient management. We present a digital archive of the 2020 Case of the Week series of 11 cases as a means of further enhancing the education of those interested in CMR and as a means of more readily identifying these cases using a PubMed or similar search engine.

Expression of p40 in Primary Cutaneous Mucinous Carcinoma Versus Primary Mucinous Carcinomas of the Breast and Colon.

BACKGROUND: The transcription factor p63 is a homolog of p53, expressed in basal layers of epithelia and myoepithelial cells. Some studies have suggested that p63 may provide utility in differentiating primary versus metastatic mucinous carcinoma of the skin, given its preferential expression in primary adnexal neoplasms. There have been few studies investigating the expression patterns of p40, an isoform of p63, in primary cutaneous mucinous carcinomas. METHODS: An immunohistochemical panel including p40, CK7, CK20, estrogen receptor, and progesterone receptor was applied to primary mucinous carcinomas of the skin, breast, and colon. RESULTS: Only a small subset (25%) of primary cutaneous mucinous carcinomas displayed focal positive staining with p40, similar to what has been reported in the literature for p63. All primary mucinous carcinomas of skin and breast labeled positively with CK7, estrogen receptor, and progesterone receptor. Primary colon mucinous carcinomas were only positive for CK20. CONCLUSIONS: Based on these results, p40 seems to be an insufficient marker for distinguishing primary versus metastatic mucinous carcinoma due to its low rate of positivity in primary cutaneous mucinous carcinomas.

Generalized Multinucleate Cell Angiohistiocytoma: Histopathological and Immunohistochemical Analyses of 10 Lesions.

ABSTRACT: Multinucleate cell angiohistiocytoma (MCAH) is an uncommon fibrohistiocytic disorder that usually presents as a localized solitary papule or multiple grouped papules. Generalized presentation is very rare with less than 20 cases reported in the literature. In this article, we present histopathological and immunohistochemical studies of 10 lesions from a patient with generalized MCAH. In all lesions, the histopathological changes were confined to a discrete zone of the superficial dermis that consisted of (1) an increase in the number of capillary-sized vessels with thickened walls, (2) presence of oval to dendritic spindle cells and stellate hyperchromatic multinucleated cells, (3) fibrosis marked by compact collagen, (4) hypertrophy and hyperplasia of small nerve fibers, and (5) a moderately dense lymphocytic infiltrate. The entire population of the cellular component including the multinucleated cells stained for CD10, whereas a subpopulation of the mononuclear spindle cells stained for factor XIIIa and CD68. CD34 highlighted only the blood vessels. The results confirm that the multinucleated cells lack expression of CD68 and factor XIIIa and that CD10 may be used to highlight the entire cellular component. The rarely reported hypertrophy and hyperplasia of nerve fibers in MCAH may be a common finding as it was observed in all 10 lesions.

Evolution of a melanoma in situ to a sarcomatoid dedifferentiated melanoma.

Sarcomatoid dedifferentiated melanoma (SDDM) is a recently recognized subtype of melanoma that stains diffusely for CD10 and lacks the expression of the usual melanocytic markers including S100, SOX10, MITF, and Melan A. Advances in next-generation DNA sequencing technology have facilitated the increased recognition of this rare, aggressive spindle cell melanoma. Herein, a case of relatively early lesion of SDDM arising in association with melanoma in situ is highlighted. A 72-year-old man with a history of previously treated melanoma in situ on the face five years prior presented with a new rapidly growing lesion within the scar of the treated site. A shave biopsy of the lesion revealed a centrally located 1.8-mm deep, poorly differentiated spindle cell neoplasm in association with an adjacent recurrent melanoma in situ. The spindle cell component stained diffusely for CD10, but failed to stain for S100, SOX10, and Melan-A while the melanoma in situ expressed all three melanocytic markers. Next-generation DNA sequencing assay revealed mutations in NF1, CDKN2A, TP53, and TSC1. A diagnosis of stage 2B SDDM arising in association with melanoma in situ was established based on the clinical context and genomic assay results.

Clinical and histopathological features of pagetoid Spitz nevi of the thigh.

BACKGROUND: Pagetoid Spitz nevus is a rare subtype of Spitz nevus usually found on the lower extremities, particularly on the thigh of women. As a rare and under-recognized entity that can be misdiagnosed as melanoma, further characterization of clinical and histopathological features is needed to improve its recognition. METHODS: A retrospective analysis of all melanocytic neoplasms from the thigh diagnosed over a 3-year period. RESULTS: Fifty-five (15.4%) of the 357 melanocytic neoplasms on the thigh were Spitz nevi, the majority of them occurring in women (87.3%). Of the 55 Spitz nevi, 33 (60.0%) were pagetoid Spitz nevi, 14 (25.5%) were Reed nevi, and eight (14.5%) were conventional Spitz nevi. The mean age of patients with pagetoid Spitz nevi was 47.2, the majority being women (84.9%). Pagetoid Spitz nevi were small, with a mean histopathologic diameter of 4 mm, and often junctional (63.6%). Compared to Clark nevi of the thigh, pagetoid Spitz nevi comprised significantly more solitary melanocytes with a greater degree of scatter. CONCLUSIONS: These results suggest that Spitz nevi and, in particular, pagetoid Spitz nevi constitute a significant percentage of nevi on the thigh. Previously reported benign clinical and histopathological features of pagetoid Spitz nevi are confirmed in this study.

Characteristics of Nontuberculous Mycobacterial Infections at a Midwestern Tertiary Hospital: A Retrospective Study of 365 Patients.

BACKGROUND: The prevalence of infections due to nontuberculous mycobacteria (NTM) is increasing worldwide, yet little is known about the epidemiology and pathophysiology of these ubiquitous environmental organisms. Pulmonary disease due to Mycobacterium avium complex is most prevalent, but many other NTM species can cause disease in virtually any organ system. As NTM becomes an increasingly common cause of morbidity and mortality, more information is needed about the epidemiology of NTM disease. METHODS: We conducted a retrospective chart review of all patients with cultures that grew NTM at a Midwestern tertiary hospital from 1996 to 2017. Information on demographics, medical history, clinical findings, treatment, and outcome was obtained from medical records of all NTM isolates. American Thoracic Society/Infectious Diseases Society of America criteria were used to define pulmonary NTM infections. RESULTS: We identified 1064 NTM isolates, 365 of which met criteria for NTM infection. Pulmonary cases predominated (185 of 365; 50.7%), followed by skin/soft tissue (56 of 365; 15.3%), disseminated (40 of 365; 11%), and lymphatic (28 of 365; 7.7%) disease. Mycobacterium avium complex was the most common species (184 of 365; 50.4%). Individuals aged >50 years were most affected (207 of 365; 56.7%). Common comorbidities included structural lung disease (116 of 365; 31.8%), use of immunosuppressive medications (78 of 365; 21.4%), malignancy (59 of 365; 16.2%), and human immunodeficiency virus (42 of 365; 11.5%). CONCLUSIONS: This large cohort provides information on the demographics, risk factors, and disease course of patients with pulmonary and extrapulmonary NTM infections. Most patients had medical comorbidities that resulted in anatomic, genetic, or immunologic risk factors for NTM infection. Further population-based studies and increased disease surveillance are warranted to further characterize NTM infection prevalence and trends.

Assessing factors affecting sunscreen use and barriers to compliance: a cross-sectional survey-based study.

While sunscreen is effective prevention for skin cancer, public sunscreen use and compliance are low. Identifying factors affecting sunscreen use and barriers to compliance are important to understand in order to increase sunscreen use, especially among high-risk individuals. We conducted a single institution survey of 429 dermatology clinic patients to better understand patients' barriers to sunscreen use. Overall several personal barriers to sunscreen use included dislike of feel or appearance of sunscreen (33.7%) and time constraints (15.3%). The cost was a barrier to use in 16.4% of cases underscoring the importance for dermatologists to consider socioeconomic barriers to sunscreen use and provide cost-effective sun protection counseling to patients whenever possible. Dermatologists recommending sunscreen use was associated with a higher rate of use of sunscreen (p < .001) highlighting the important role of sun protective counseling by the dermatologist.

Inpatient teledermatology: Current state and practice gaps.

BACKGROUND: Inpatient dermatology care can be challenging for dermatologists. Currently teledermatology is widely used in the outpatient setting but is not common in the inpatient setting, although it has the potential to reduce wait times and improve access to care. OBJECTIVE: To review the available literature on inpatient teledermatology, assess how teledermatology is currently being used in the inpatient setting, and recommend best practice use of inpatient teledermatology. METHODS: A literature review was performed and dermatology attending physicians were surveyed at the Society for Dermatology Hospitalists annual meeting about their current use of inpatient teledermatology. RESULTS: The majority of attending physicians (80.8%, n = 21/26) responded that their institution uses some form of teledermatology. Approximately half of those using teledermatology used it for both inpatient and outpatient consultations (55%, n = 11/20). For institutions with inpatient teledermatology, attending physicians used teledermatology to remotely staff inpatient consultations (81.8%, n = 9/11), triage consultations (63.6%, n = 7/11), and answer curbside questions from primary teams (18.2%, n = 2/11). LIMITATIONS: The limitations of this study include a limited sample size from a single meeting. CONCLUSION: Inpatient teledermatology is currently under-utilized has the potential to increase access to dermatology care and may be best used for triaging and remote staffing. Additionally, standardization of platforms and reimbursement would allow for increased use of inpatient teledermatology.

Patient perceptions of antibiotic use and resistance at a single university dermatology clinic.

Antibiotic resistance is an important problem that requires continued patient education and important prescribing stewardship. Dermatologists prescribe the most antibiotics per provider in comparison to other specialties and have an important role to play in the campaign of mindful prescribing. Data on the dermatology patients' knowledge and perception regarding antibiotic resistance is lacking and could play a role in providers' continuation of medications. We conducted a single institution survey of 512 dermatology clinic patients to understand patient's knowledge and potential gaps. Overall, our results demonstrated an overall higher level of knowledge than expected, there were still several knowledge gaps identified. Ninety-one percent of respondents were aware of the term 'antibiotic resistance'. However, 65% of participants believed that a short course of antibiotics could not cause resistance. While our patients have awareness of antibiotic resistance, it is imperative to continue to assess patients' knowledge about antibiotic resistance and provide education whenever possible in order to continue to practice antibiotic stewardship.

Cutaneous Infections Due to Nontuberculosis Mycobacterium: Recognition and Management.

Nontuberculous mycobacteria (NTM) are a diverse group of organisms that are ubiquitous in the environment, and the incidence of cutaneous infections due to NTM has been steadily increasing. Cutaneous infections due to NTM can be difficult to diagnose, due to their wide spectrum of clinical presentations and histopathological findings that are often nonspecific. A variety of modalities including tissue culture and polymerase chain reaction (PCR) assays may be necessary to identify the organism. Treatment can also be challenging, as it can depend on multiple factors, including the causative organism, the patient's immunological status, and the extent of disease involvement. In this review, we discuss the common presentations of cutaneous NTM infections, diagnostic tools, and treatment recommendations. A multi-disciplinary approach that involves good communication between the clinician, the histopathologist, the microbiologist, and infectious disease specialists can help lead to successful diagnosis and management.