Neonatal Sweet syndrome with associated rectovestibular fistula and review of the literature.

An otherwise healthy 4-week-old term female of Japanese heritage presented with a 1-week history of asymptomatic progressive, generalized skin lesions. The lesion morphology, distribution, and dermatopathology result was consistent with Sweet syndrome. The patient was found to have a congenital type H rectovestibular fistula. This case highlights the rare association of rectovestibular fistula in neonatal Sweet syndrome which has only been described in neonates of Japanese heritage.

Vanadium and strontium co-doped hydroxyapatite enriched polycaprolactone matrices for effective bone tissue engineering: A synergistic approach.

Scientific research targeted at enhancing scaffold qualities has increased significantly during the last few decades. This emphasis frequently centres on adding different functions to scaffolds in order to increase their usefulness as instruments in the field of regenerative medicine. This study aims to investigate the efficacy of a multifunctional sustainable polymer scaffold, specifically Polycaprolactone (PCL) embedded with hydroxyapatite co-doped with vanadium and strontium (HVS), for bone tissue engineering applications. Polycaprolactone was used to fabricate the scaffold, while hydroxyapatite co-doped with vanadium and strontium (HVS) served as the nanofiller. A thorough investigation of the physicochemical and biological characteristics of the HVS nanofiller was carried out using cutting-edge techniques including Dynamic Light Scattering (DLS), and X-ray Photoelectron Spectroscopy (XPS) and in vitro cell studies. A cell viability rate of more than 70 % demonstrated that the synthesised nanofiller was cytotoxic, but in an acceptable range. The mechanical, biological, and physicochemical properties of the scaffold were extensively evaluated after the nanofiller was integrated. The water absorption characteristics of scaffold were enhanced by the addition of HVS nanofillers, leading to increased swelling, porosity, and hydrophilicity. These improvements speed up the flow of nutrients and the infiltration of cells into the scaffold. The scaffold has been shown to have important properties that stimulate bone cell activity, including better biodegradability and improved mechanical strength, which increased from 5.30 ± 0.37 to 10.58 ± 0.42 MPa. Further, its considerable antimicrobial qualities, blood-compatible nature, and capacity to promote biomineralization strengthen its appropriateness for usage in biomedical applications. Mainly, enhanced Alkaline phosphatase (ALP) activity, Alizarin Red Staining (ARS) activity, and excellent cell adhesive properties, indicating the outstanding osteogenic potential observed in rat bone marrow-derived stromal cells (rBMSC). These combined attributes highlight the pivotal role of these nanocomposite scaffolds in the field of bone tissue engineering.

Complex cutaneous leishmaniasis in a pediatric patient.

Cutaneous leishmaniasis (CL), a parasitic infection caused by Leishmania protozoa and transmitted by sandfly bites, can be classified into Old World and New World subtypes. We report a case of a 2-year-old female who developed complex CL after travel to Panama. Ultimately, successful treatment required two rounds of liposomal amphotericin B. We report this case for its challenging clinical course and management.

Multimodality Imaging of Benign and Malignant Diseases of the Nipple-Areolar Complex.

The nipple-areolar complex (NAC), a unique anatomic structure of the breast, encompasses the terminal intramammary ducts and skin appendages. Several benign and malignant diseases can arise within the NAC. As several conditions have overlapping symptoms and imaging findings, understanding the distinctive nipple anatomy, as well as the clinical and imaging features of each NAC disease process, is essential. A multimodality imaging approach is optimal in the presence or absence of clinical symptoms. The authors review the ductal anatomy and anomalies, including congenital abnormalities and nipple retraction. They then discuss the causes of nipple discharge and highlight best practices for the imaging workup of pathologic nipple discharge, a common condition that can pose a diagnostic challenge and may be the presenting symptom of breast cancer. The imaging modalities used to evaluate and differentiate benign conditions (eg, dermatologic conditions, epidermal inclusion cyst, mammary ductal ectasia, periductal mastitis, and nonpuerperal abscess), benign tumors (eg, papilloma, nipple adenoma, and syringomatous tumor of the nipple), and malignant conditions (eg, breast cancer and Paget disease of the breast) are reviewed. Breast MRI is the current preferred imaging modality used to evaluate for NAC involvement by breast cancer and select suitable candidates for nipple-sparing mastectomy. Different biopsy techniques (US -guided biopsy and stereotactic biopsy) for sampling NAC masses and calcifications are described. This multimodality imaging approach ensures an accurate diagnosis, enabling optimal clinical management and patient outcomes. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.

Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.

The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular anomalies and overgrowth syndromes. Germline PIK3R1 variants are associated with varying phenotypes, including immunodeficiency or facial dysmorphism with growth delay, lipoatrophy, and insulin resistance associated with SHORT syndrome. There has been limited study of the molecular mechanism to unify our understanding of how variants in PIK3R1 drive both undergrowth and overgrowth phenotypes. Thus, we compiled genomic variants from cancer and rare vascular anomalies and sought to interpret their effects using an unbiased physics-based simulation approach for the protein complex. We applied molecular dynamics simulations to mechanistically understand how genetic variants affect PIK3R1 and its interactions with PIK3CA. Notably, iSH2 genetic variants associated with undergrowth destabilize molecular interactions with the PIK3CA receptor binding domain in simulations, which is expected to decrease activity. On the other hand, overgrowth and cancer variants lead to loss of inhibitory interactions in simulations, which is expected to increase activity. We find that all disease variants display dysfunctions on either structural characteristics or intermolecular interaction energy. Thus, this comprehensive characterization of novel mosaic somatic variants associated with two opposing phenotypes has mechanistic importance and biomedical relevance and may aid in future therapeutic developments.

Guidelines of care for the management of acne vulgaris.

BACKGROUND: Acne vulgaris commonly affects adults, adolescents, and preadolescents aged 9 years or older. OBJECTIVE: The objective of this study was to provide evidence-based recommendations for the management of acne. METHODS: A work group conducted a systematic review and applied the Grading of Recommendations, Assessment, Development, and Evaluation approach for assessing the certainty of evidence and formulating and grading recommendations. RESULTS: This guideline presents 18 evidence-based recommendations and 5 good practice statements. Strong recommendations are made for benzoyl peroxide, topical retinoids, topical antibiotics, and oral doxycycline. Oral isotretinoin is strongly recommended for acne that is severe, causing psychosocial burden or scarring, or failing standard oral or topical therapy. Conditional recommendations are made for topical clascoterone, salicylic acid, and azelaic acid, as well as for oral minocycline, sarecycline, combined oral contraceptive pills, and spironolactone. Combining topical therapies with multiple mechanisms of action, limiting systemic antibiotic use, combining systemic antibiotics with topical therapies, and adding intralesional corticosteroid injections for larger acne lesions are recommended as good practice statements. LIMITATIONS: Analysis is based on the best available evidence at the time of the systematic review. CONCLUSIONS: These guidelines provide evidence-based recommendations for the management of acne vulgaris.

Dermatologic manifestations in pediatric patients with inflammatory bowel disease.

BACKGROUND: Despite studies of dermatologic manifestations in adults with inflammatory bowel disease (IBD), little is known about the prevalence of IBD-associated skin lesions and their correlation with IBD severity in children. We aimed to address these knowledge gaps in our single-center cohort of children with IBD. METHODS: Retrospective chart review of 528 children and adolescents (≤18 years old) with IBD and seen at Mayo Clinic (Rochester, MN) between 1999 and 2017 was conducted. The Chi-Square/Fischer's exact test (with p ≤ .05 to signify statistical significance) was applied to compare categorical outcomes between Crohn's disease (CD) and ulcerative colitis (UC) patients. RESULTS: In total, 425 IBD patients (64.9% CD, 53% males) and ≥1 dermatologic diagnosis were included. Presence of ≥1 cutaneous infection was recorded in 42.8% of participants. Acne was the most common non-infectious dermatologic condition (30.8%), followed by eczema (15.8%) and perianal skin tags (14.6%). Angular cheilitis (p = .024), keratosis pilaris (KP, p = .003), and perianal skin complications (i.e., skin tags, fistula, and abscesses; all p < .001) were more frequently diagnosed among children with CD, while fungal skin infections (p = .017) were more frequently diagnosed in UC patients. Severity of IBD correlated with higher prevalence of perianal fistula (p = .003), perianal abscess (p = .041), psoriasis (p < .001), and pyoderma gangrenosum (PG, p = .003). CONCLUSIONS: Both IBD-specific and IBD-nonspecific dermatologic conditions are very prevalent in childhood IBD, the most common being infectious. Children with CD are more likely to experience angular cheilitis, KP, and perianal skin findings than those with UC. Perianal disease, psoriasis, and PG are associated with more severe IBD.

Perceptions of barriers towards dental appointment keeping among patients of a tertiary care setting: A mixed method exploration.

Objectives: To explore the barriers governing dental appointment keeping among patients reporting to a tertiary care setting. To assess the prevalence of missed dental appointments in a tertiary care center. Primary: To explore the barriers governing dental appointment keeping among patients reporting to a tertiary care setting. Secondary: To assess the prevalence of missed dental appointments in a tertiary care center. Methodology: The study design adopted is a sequential explanatory mixed method design; here, quantitative data collection and analysis is followed by qualitative data/analysis. The quantitative arm recorded six months of retrospective data on missed appointments in the centre. Prevalence was estimated, and descriptive and inferential statistics were performed. For the qualitative component, focus group discussions and in-depth interviews were conducted among dental health professionals and patients. Data was transcribed, and thematic content analysis was performed using NVivo software. Results: The prevalence of missed appointments in the tertiary care centre was 8.4 %. Personal/health issues (30.7 %) were noticed to be the most reported reason for missed appointments. Other causes include distance to the clinic (17.2 %), inflexible work schedule (14.7 %), transportation (12.3 %), dental anxiety (6.7 %), and economic issues (5.5 %). Qualitative data revealed the appointment system, experiences, consequences, responsible factors, management, and prevention of missed appointments in a tertiary care dental centre. Conclusion and recommendations: Multiple barriers are identified for dental appointment-keeping behavior. Missed appointments are prevalent in the study setting, as dental treatments require multiple sittings to complete. The study's findings primarily focus on a tertiary care center and may reflect reduced prevalence due to the COVID-19 pandemic. Tailor-made interventions are suggested for tertiary care settings to manage and prevent missed appointments, paving the way for successful health care delivery.

Teledermatology in practice: Report of Mayo Clinic experience.

Background: Delivery of dermatologic care through telemedicine was accelerated by the COVID-19 pandemic. We sought to analyze the teledermatology experience across Mayo Clinic's health care system to identify strengths and limitations of teledermatology. Methods: Electronic health records of dermatology televisits were reviewed from multiple U.S. Mayo Clinic sites from January 2020 through January 2021. Results: A total of 13,181 dermatology televisits were conducted in 6468 unique patients. Patients were primarily female (60.2%), and mean age of all patients was 34.1 years. Synchronous / live video conferencing visits were the most common (40.0%) telecare modality. Synchronous / live audio conferencing and asynchronous / store-and-forward visits comprised 33.0% and 27.0% of appointments. In total, 3944 televisits (29.9%) were successfully concluded via a single appointment. An in-person appointment was needed for 1693 patients (26.2%) after their initial televisit. For patients with a single televisit, synchronous / live video conferencing was the most common virtual modality (58.0% vs 32.2% of patients with multiple visits, p < 0.001). Patients needing in-person follow-up visits were slightly older than those who did not (mean [SD], 38.8 [22.3] vs 35.0 [23.6] years; p < 0.001) but without any sex-based difference. Around one-third of patients needed an in-person follow-up visit after their initial asynchronous / store-and-forward visit which was higher when compared with synchronous / live audio and video conferencing. Conclusion: Single dermatology televisits effectively managed nearly one-third of patients who did not require in-person follow-up. An initial synchronous / live video conferencing was more likely to yield a single clinical encounter, whereas asynchronous / store-and-forward visits required more in-person follow-up. Future studies are required that focus on dermatology-specific cost, diagnoses, access, quality of care, and outcomes.

Multimorbidity in Psoriasis as a Risk Factor for Psoriatic Arthritis: A Population-Based Study.

OBJECTIVES: To examine multimorbidity in psoriasis and its association with the development of PsA. METHODS: A retrospective cohort study was performed using the Rochester Epidemiology Project. Population-based incidence (2000-2009) and prevalence (Jan 1, 2010) cohorts of psoriasis were identified by manual chart review. A cohort of individuals without psoriasis (comparators) were identified (1:1 matched on age, sex, and county). Morbidities were defined using ≥2 Clinical Classification Software codes ≥30 days apart within prior five years. PsA was defined using ClASsification of Psoriatic ARthritis (CASPAR) criteria. χ2 and rank-sum tests were used to compare morbidities, and age-, sex-, and race-adjusted Cox models to examine the association of baseline morbidities in psoriasis with development of PsA. RESULTS: Among 817 incident psoriasis patients, the mean age was 45.2 years with 52.0% females, and 82.0% moderate/severe psoriasis. No multimorbidity differences were found between incident psoriasis patients and comparators. However, in the 1,088 prevalent psoriasis patients, multimorbidity was significantly more common compared with 1,086 comparators (OR : 1.35 and OR : 1.48 for ≥2 and ≥5 morbidities, respectively). Over a median 13.3-year follow-up, 23 patients (cumulative incidence: 2.9% by 15 years) developed PsA. Multimorbidity (≥2 morbidities) was associated with a 3-fold higher risk of developing PsA. CONCLUSION: Multimorbidity was more common in the prevalent but not incident cohort of psoriasis compared with the general population, suggesting patients with psoriasis may experience accelerated development of multimorbidity. Moreover, multimorbidity at psoriasis onset significantly increased the risk of developing PsA, highlighting the importance of monitoring multimorbid psoriasis patients for the development of PsA.

Pathogenesis-directed treatment of linear porokeratosis with topical cholesterol-lovastatin.

A 2-year-old boy presented with an extensive, asymptomatic, photosensitive eruption refractory to topical steroids and tretinoin; examination and biopsies were consistent with generalized linear porokeratosis involving the face, limbs, and trunk. Treatment with topical cholesterol-lovastatin was initiated, and it successfully improved early erythematous lesions. Whole exome sequencing that targeted mevalonate pathway genes crucial in cholesterol synthesis later revealed a pathogenic, paternally inherited, porokeratosis-associated MVD, c.70+5 G>A, mutation. Topical cholesterol-lovastatin is a safe and effective empiric treatment for porokeratosis when used in the early, erythematous phase, and its success is likely mediated through its role in targeting mevalonate pathway mutations.

Bridging the gap in BASCULE syndrome: A retrospective case series of a recently described clinical entity.

BACKGROUND: Bier anemic spots, cyanosis with urticaria-like eruption (BASCULE) syndrome is a recently described entity with episodic urticarial lesions and white anemic halos on a background of erythrocyanosis, commonly affecting the lower extremities. Possible association with autonomic dysfunction remains poorly understood. Existing publications are limited, but the condition is suggested as highly underrecognized. OBJECTIVE: To further characterize clinical and epidemiologic data for BASCULE syndrome. METHODS: We performed an IRB-approved retrospective chart review on patients with BASCULE syndrome evaluated at Mayo Clinic from April 2021 to November 2022. RESULTS: A total of 17 patients were identified (13 female, 4 male). Median age of onset was 12 years (range 9-17). Lower extremities were involved in all patients (17). Most patients were symptomatic with pruritus (8) or burning pain (8); three were asymptomatic. Triggers were standing (11), hot showers or hot environments (7), or no clear trigger (4). Autonomic dysfunction was present in 10 patients. Treatment responses were observed from propranolol (3) and high-dose cetirizine (1). CONCLUSION: Novel epidemiologic data from 17 pediatric and young adult patients with BASCULE syndrome further supports an association with autonomic dysfunction and suggests a higher prevalence than previously acknowledged.