Background: A sizeable proportion of pathogenic genetic variants identified in young children tested for congenital differences are associated with neurodevelopmental psychiatric disorders (NPD). In this growing group, a genetic diagnosis often precedes the emergence of diagnosable developmental concerns. Here, we describe DAGSY (Developmental Assessment of Genetically Susceptible Youth), a novel interdisciplinary 'genetic-diagnosis-first' clinic integrating psychiatric, psychological and genetic expertise, and report our first observations and feedback from families and referring clinicians.
View Article and Find Full Text PDFPediatric procedure-related pain management is often incompletely understood, inadequately addressed, and critical in influencing a child's lifelong relationship with the larger healthcare community. We present a comprehensive review of infiltrative anesthetics, including a comparison of their mechanisms of action and relative safety and efficacy data to help guide clinical selection. We also describe the multimodal utilization of adjunct therapies-in series and in parallel-to support the optimization of pediatric periprocedural pain management, enhance the patient experience, and provide alternatives to sedation medication and general anesthesia.
View Article and Find Full Text PDFBackground: Adult populations have traditionally been the primary recipients of cosmetic treatments, but a growing trend shows an increase in such procedures among pediatric patients.
Objective: The objective of the authors' study was to investigate types of procedures currently being performed by pediatric and cosmetic dermatologists and factors that may influence their choice of treatments in a pediatric population.
Methods: The authors conducted an anonymous online survey targeting healthcare practitioners who frequently use lasers for pediatric cutaneous conditions.
We live in an electronic world with near-ubiquitous access to smartphones and social media. One consequence of this new reality is that children and teenagers may be unduly swayed by social media influencers who promote skincare products and practices, colloquially referred to as "skinfluencers," and enjoy unfettered access to emerging trends-not all of which lead to positive results. Herein, we describe two cases of adolescents presenting to a pediatric dermatology department after trying different beauty trends endorsed by social media influencers.
View Article and Find Full Text PDFPediatric procedure-related pain management is often incompletely understood, inadequately addressed, and critical in influencing a child's lifelong relationship with the larger health care community. We highlight the evolution of ethics and expectations around optimizing periprocedural pain management as a fundamental human right. We investigate the state-of-the-art of topical anesthetics, reviewing their mechanisms of action and providing comparisons of their relative safety and efficacy data to help guide clinical selection.
View Article and Find Full Text PDFMany rare genetic variants are associated with the risk of atypical neurodevelopmental trajectories. In this study, we report a patient with developmental delay, autistic traits and multiple congenital anomalies, including congenital heart anomalies and orofacial cleft, with a 0.832 Mb de novo deletion of the 16p13.
View Article and Find Full Text PDFA 9-year-old premenarchal female presented to pediatric dermatology with a 6-month history of periodically tender, bilateral and symmetric axillary masses. Magnetic resonance imaging and subsequent surgical excision confirmed the diagnosis of bilateral accessory axillary breast tissue. Accessory axillary breast tissue is a rare condition seen most in pubertal, pregnant and breastfeeding women.
View Article and Find Full Text PDFBackground: Biological motion imparts rich information related to the movement, actions, intentions and affective state of others, which can provide foundational support for various aspects of social cognition and behavior. Given that atypical social communication and cognition are hallmark symptoms of autism spectrum disorder (ASD), many have theorized that a potential source of this deficit may lie in dysfunctional neural mechanisms of biological motion processing. Synthesis of existing literature provides some support for biological motion processing deficits in autism spectrum disorder, although high study heterogeneity and inconsistent findings complicate interpretation.
View Article and Find Full Text PDFThe treatment of advanced basal cell carcinoma (BCC) often requires therapies beyond local surgical excision or radiation due to the invasiveness of the tumor. Historically, cytotoxic chemotherapy was used to treat advanced BCC, but with limited data, no standard regimens were established. The discovery of cyclopamine, a natural inhibitor in the Hedgehog pathway, led to the development of the 2 currently approved Hedgehog inhibitors, vismodegib and sonidegib.
View Article and Find Full Text PDFBasal cell carcinoma (BCC) is the most common human cancer, with approximately 3.6 million cases diagnosed each year. About 2000 deaths annually in the United States are attributed to basal and squamous cell skin cancers.
View Article and Find Full Text PDFBackground: Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) have considerable overlap, supporting the need for a dimensional framework that examines neurodevelopmental domains which cross traditional diagnostic boundaries. In the following study, we use factor analysis to deconstruct the ASD-ADHD phenotype into its underlying phenotypic domains and test for measurement invariance across adaptive functioning, age, gender and ASD/ADHD clinical diagnoses.
Methods: Participants included children and youth (aged 3-20 years) with a clinical diagnosis of ASD (n = 727) or ADHD (n = 770) for a total of 1,497 participants.
This procedural report details the case of a 10-year-old boy with oral Crohn's disease successfully treated with intralesional corticosteroid injections. The intervention used topical anesthesia with a eutectic mixture of lidocaine 2.5%/prilocaine 2.
View Article and Find Full Text PDFMany phenotypic studies have estimated the degree of comorbidity between Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD), but few have examined the latent, or unobserved, structure of combined ASD and ADHD symptoms. This is an important perquisite toward better understanding the overlap between ASD and ADHD. We conducted a scoping review of studies that examined the factor or latent class structure of ASD and ADHD symptoms within the same clinical or general population sample.
View Article and Find Full Text PDFBackground And Objectives: Acne scars are one of the most distressing and long-term consequences of acne vulgaris, with damaging effect on a person's physical, mental, and social well-being. Numerous treatment options are available including surgical and nonsurgical techniques, depending on the clinical presentation. Although considerable advances in the development of new treatment technologies and applications have been made in the last decade, international treatment guidelines and reimbursement schemes have not yet caught up with current knowledge and practice in many centers.
View Article and Find Full Text PDFSuperficial angiomyxomas are cutaneous mesenchymal tumours that typically present clinically as slow-growing, solitary, asymptomatic nodules that can occur at any age. Histopathologically, these dermal and subcutaneous tumours are characterized by abundant myxoid stroma, numerous thin-walled and often arbourising blood vessels, and spindled to stellate fibroblast-like cells. While usually sporadic, superficial angiomyxomas can occasionally be associated with Carney complex (CNC), an autosomal dominant disorder characterized by inactivating germline mutations in the 1-alpha regulatory subunit of protein kinase A (PRKAR1A) and various clinical manifestations, including cardiac myxomas, facial lentigines, epithelioid blue naevi, endocrinopathies and psammomatous melanotic schwannomas.
View Article and Find Full Text PDFAm J Hosp Palliat Care
February 2022
Introduction: Dying in the hospital is not always a good experience for patients and their families. To be more in line with evidence-based practices for healthcare workers to effectively support high quality end of life care, the project team implemented a standardized communication tool to alert interdisciplinary team members of patients on comfort care measures.
Methods: Purple Butterfly was a quality improvement project that was implemented at a diverse community hospital in the urban setting.
Two adolescent boys presented with acute acneiform eruptions in the setting of recent dupilumab administration. Subsequent investigation via direct scraping of pustules revealed live Demodex mite colonization of the face. These adolescent patients represent a population not commonly associated with Demodex folliculitis, and we theorize their baseline commensal Demodex mite population may have increased as a consequence of dupilumab-induced, focused immunomodulation.
View Article and Find Full Text PDFPort-wine birthmarks (PWBs) are progressive vascular malformations with significant disfigurement and psychosocial morbidity; early light-based treatment has shown improved outcomes in the pediatric population. Somatic mosaic mutations underly the progressive nature of PWBs and explain the significant differences in response and heterogeneity of vessel architecture in the pediatric population when compared to the adult cohort. Here, we summarize a review of pediatric specific literature on the various light-based treatment modalities, including pulsed dye laser, near-infrared lasers, and intense pulsed light, providing the various indications, tips, advantages, and disadvantages for the pediatric dermatologist.
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