CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

PLACK syndrome (OMIM 616295) is a rare genodermatosis associated with peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads and is caused by loss-of-function mutations in the CAST gene, which encodes calpastatin, a calcium-dependent protease. This case report highlights a case of PLACK syndrome presenting with the unique findings of striate hyperkeratosis on the palms as well as life-threatening cardiomyopathy. We review why CAST mutations might impact cardiac function and raise awareness of the potential association between PLACK syndrome and cardiac manifestations.

Virtual reality and noise canceling headphone distraction during pediatric dermatologic procedures.

Pain and anxiety related to medical procedures have long been recognized as a significant healthcare concern. If a patient's procedural pain and anxiety are not addressed, long-term physical and psychological sequelae including increased perceived pain, anxiety, disruptive behavior, trauma reactions, or refusal of future procedures can occur. The objective of our study was to assess the utility of a virtual reality (VR) headset or noise-canceling headphones (HP) compared to treatment as usual (TAU) in reducing pain and anxiety during pediatric dermatology procedures. Results indicated a significant difference between pre- versus post-procedure anxiety in the VR and HP groups but not the TAU group suggesting non-pharmacologic technology-based interventions such as VR and headphones may reduce patients' anxiety during pediatric dermatology procedures.

A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy.

Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor 1 (PLA2R1) and thrombospondin type-1 domain containing 7A (THSD7A). In Europeans, genetic variation in at least five loci, PLA2R1, HLA-DRB1, HLA-DQA1, IRF4, and NFKB1, affects the risk of disease. Here, we investigated the genetic risk differences between different autoantibody states. Methods: 1,409 MN individuals were genotyped genome-wide with a dense SNV array. The genetic risk score (GRS) was calculated utilizing the previously identified European MN loci, and results were compared with 4,929 healthy controls and 422 individuals with steroid-sensitive nephrotic syndrome. Results: GRS was calculated in the 759 MN individuals in whom antibody status was known. The GRS for MN was elevated in the anti-PLA2R1 antibody-positive (N = 372) compared with both the unaffected control (N = 4,929) and anti-THSD7A-positive (N = 31) groups (p < 0.0001 for both comparisons), suggesting that this GRS reflects anti-PLA2R1 MN. Among PLA2R1-positive patients, GRS was inversely correlated with age of disease onset (p = 0.009). Further, the GRS in the dual antibody-negative group (N = 355) was intermediate between controls and the PLA2R1-positive group (p < 0.0001). Conclusion: We demonstrate that the genetic risk factors for PLA2R1- and THSD7A-antibody-associated MN are different. A higher GRS is associated with younger age of onset of disease. Further, a proportion of antibody-negative MN cases have an elevated GRS similar to PLA2R1-positive disease. This suggests that in some individuals with negative serology the disease is driven by autoimmunity against PLA2R1.

Reactive infectious mucocutaneous eruption following COVID-19 in an adolescent boy: Case report and review of the literature.

Reactive infectious mucocutaneous eruption (RIME) is a mucosal-predominant eruption that usually affects two or more mucosal sites. We present a case of RIME secondary to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and provide a brief review of the literature with a focus on the natural history and response to treatment. This entity may require inpatient management and systemic corticosteroids for symptom control in the pediatric population.

Caregiver Preferences and Barriers Toward Accessing Pediatric Dermatology Care for Childhood Atopic Dermatitis.

INTRODUCTION: Atopic dermatitis (AD) is a common chronic childhood illness. It is often treated by primary care providers (PCPs) though it may require referral to a dermatology specialist. METHOD: We administered an exploratory survey to 50 caregivers of children aged 0-17 years with AD to assess their preferences and barriers toward accessing dermatology specialty care for their child's AD. RESULTS: Caregivers felt PCPs and specialists equally listened to their child's AD concerns. However, many felt there was a difference in the care provided and control of the AD and preferred to see a specialist for ongoing management. DISCUSSION: Caregivers may benefit from their children being referred to dermatology specialists earlier and more often for their AD. Further work must be done to characterize preferences and barriers toward AD care across race and ethnicity.

Validation of remote atopic dermatitis severity assessment with the Eczema Area and Severity Ondex in children using caregiver-provided photos and videos.

BACKGROUND/OBJECTIVES: We sought to quantify the reliability and validity of remote atopic dermatitis (AD) severity assessment using the Eczema Area and Severity Index (EASI) applied to caregiver-provided photos (p-EASI) and videos (v-EASI). METHODS: Children (0-17 years) with a physician diagnosis of AD were recruited. Caregivers took photos and a video of their child's skin. A clinician scored in-person EASI on the same day, then p-EASI and v-EASI for each participant 10 days or more between ratings. Two additional clinicians scored p-EASI and v-EASI. Lin's concordance correlation coefficient (CCC) was employed to assess criterion validity using in-person EASI as the gold standard. Intraclass correlation coefficients (ICCs) were calculated to assess interrater reliability of p-EASI and v-EASI. RESULTS: Fifty racially and ethnically diverse children (age [mean ± SD]: 4.3 ± 4.4 years; 42% female) with a range of AD severity (EASI: 6.3 ± 6.4) and Fitzpatrick skin types (1-2: 9%; 3-4: 60%; 5-6: 31%) were enrolled and received in-person EASI assessment. Fifty had p-EASI and 49 had v-EASI by the same in-person rater, and by two additional raters. The CCC and ICC for p-EASI were 0.89, 95% CI [0.83, 0.95] and 0.81, 95% CI [0.71, 0.89], respectively. The CCC and ICC for v-EASI were 0.75, 95% CI [0.63, 0.88] and 0.69, 95% CI [0.51, 0.81], respectively. CONCLUSIONS: In this diverse population with a range of skin tones, p-EASI showed good criterion validity and good interrater reliability. v-EASI showed moderate to good criterion validity and moderate interrater reliability. Both may be reliable and valid options for remote AD severity assessment.

Interventions to improve primary care provider management of atopic dermatitis: A systematic review.

Most atopic dermatitis (AD) patients are managed by primary care providers (PCPs). PCP discomfort diagnosing and managing AD leads to suboptimal patient outcomes. In order to determine the efficacy of interventions aimed at improving PCP management of AD, a systematic literature review was performed for interventions to improve primary care management of AD. PubMed, MEDLINE, Embase, Scopus, LILACS, Cochrane, GREAT, and CINAHL were searched from database origin to February 24, 2020. Two reviewers independently performed the title/abstract and full-text review, and data extraction. Overall, 3009 non-duplicate articles were screened; 145 full-text articles were assessed. Thirteen studies met inclusion criteria, including 8 randomized controlled trials, 2 cohorts, 2 qualitative studies, and 1 unspecified design. Seven interventions (53.8%) significantly improved PCP knowledge/ability and/or a patient outcome, including patients consulting with a dermatology-trained nurse, pairing clinical education with expert consultation, pairing trainees with clinical mentors, giving clinicians a treatment guide, pairing clinical education with a treatment guide, and providing an eczema action plan. Studies had moderate-high risk-of-bias, moderate quality, and heterogeneous designs. There are few studies published and little evidence supporting the efficacy of interventions aimed at improving primary care management of AD. Further research is required to develop and implement effective interventions to improve primary care management of AD.

Primary hyperhidrosis in children: A review of therapeutics.

Primary hyperhidrosis, an idiopathic disease that commonly affects the palms, soles, axillae, or craniofacial region, is characterized by perspiration in excess of what is required for physiologic cooling. This disease begins in childhood or adolescence and negatively impacts emotional, physical, and psychologic well-being. This review explores current therapeutic options for primary hyperhidrosis in the pediatric population, including topical therapies, oral therapies, non-surgical and procedural interventions, and adjunctive therapies. In addition, this review identifies new and emerging treatments and highlights the need for further research and therapeutic options for this impactful disease.

Bumps in the Road: Panniculitis in Children and Adolescents Treated with Vemurafenib.

Vemurafenib is increasingly being used to treat nonmelanoma tumors that are positive for the BRAF V600E mutation. We report three children who presented with panniculitis induced by vemurafenib while undergoing treatment for central nervous system tumors and review the literature.

Precursor-B-cell-ALL leukemia cutis resembling lipomas: an atypical presentation of a rare entity and a review of the literature.

Leukemia cutis (LC) is an extramedullary manifestationof leukemia owing to cutaneous infiltration ofneoplastic cells resulting in characteristic firm,erythematous nodules. Most cases of LC occur inpatients with acute myelogenous leukemia andchronic myelogenous leukemia. However in rarecases, LC has presented in patients with acutelymphoblastic leukemia (ALL). In these rare ALLassociatedcases, only 10 cases of precursor-B-ALL(pre-B-ALL) have been described in the literature.We report a case of a 22-year-old man with relapsingpre-B-ALL who presented with a 4-day history ofmultiple asymptomatic, soft, dome-shaped, lipomalikemounds on his scalp and chin, which exhibitedcutaneous involvement by leukemic cells. To date, thisis the first case of pre-B-ALL associated leukemia cutispresenting as soft, dome-shaped mounds resemblinglipomas.

Evaluating communication between pediatric primary care physicians and hospitalists.

To determine the preferences for and satisfaction with communication between pediatric primary care physicians (PCPs) and hospitalists, 2 surveys (PCP and hospitalist versions with matching questions) were developed. Overall, PCPs were less satisfied than hospitalists with communication (P < .01). The 2 provider types had differing opinions on responsibility for care after hospital discharge, with hospitalists more likely than PCPs to assign responsibility to the PCP for pending labs (65% vs 49%; P < .01), adverse events (85% vs 67%; P < .01), or status changes (85% vs 69%; P < .01). Whereas satisfaction with and preferences for patient-related communication differed between hospitalists and PCPs, the incongruent views on the responsibility for care after patient discharge have major implications for safety particularly if poor communication occurs at discharge. Successful transitions from the hospital to primary care require communication between hospitalists and PCPs to be consistent, timely, and informative with responsibility for care discussed at discharge.