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The COVID-19 pandemic has caused significant shifts in patient care including a steep decline in ambulatory visits and a marked increase in the use of telemedicine. Infantile hemangiomas (IH) can require urgent evaluation and risk stratification to determine which infants need treatment and which can be managed with continued observation. For those requiring treatment, prompt initiation decreases morbidity and improves long-term outcomes. The Hemangioma Investigator Group has created consensus recommendations for management of IH via telemedicine. FDA/EMA-approved monitoring guidelines, clinical practice guidelines, and relevant, up-to-date publications regarding initiation and monitoring of beta-blocker therapy were used to inform the recommendations. Clinical decision-making guidelines about when telehealth is an appropriate alternative to in-office visits, including medication initiation, dosage changes, and ongoing evaluation, are included. The importance of communication with caregivers in the context of telemedicine is discussed, and online resources for both hemangioma education and propranolol therapy are provided.

BackgroundHeterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-α inhibitors.ObjectiveWe sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14.MethodsSubjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed.ResultsWe identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab.LimitationsRelatively small sample size.ConclusionsMany subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.

PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral or midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease in PHACE is incompletely described, and this study was conducted to better characterize its features. This study of the International PHACE Syndrome Registry represents the largest central review of clinical, radiologic, and histopathologic data for cardiovascular anomalies in patients with PHACE to date. Sixty-two (41%) of 150 subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31 (21%) of 150 subjects). Coarctation was the second most common anomaly, identified in 28 (19%) of 150 subjects, and can be missed clinically in patients with PHACE because of the frequent association of arch obstruction with aberrant subclavian origin. Twenty-three (37%) of 62 subjects with cardiovascular anomalies required procedural intervention. A greater percentage of hemangiomas were located on the left side of the head and neck in patients with coarctation (46% vs 39%); however, hemangioma distribution did not predict the presence of cardiovascular anomalies overall. In conclusion, PHACE is associated with a high risk of congenital heart disease. Cardiac and aortic arch imaging with detailed assessment of arch patency and brachiocephalic origins is essential for any patient suspected of having PHACE. Longitudinal investigation is needed to determine the long-term outcomes of cardiovascular anomalies in PHACE.

Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in nature and anticipate that they will be revised as more data are made available.

Background and purposePHACE is an acronym for posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Several case reports of arterial ischemic stroke (AIS) in individuals with PHACE have been published, but risk factors for AIS in PHACE have not been clearly defined. The objective of this article is to review all cases of stroke in PHACE in children and describe clinical characteristics that may be associated with an increased risk of AIS.MethodsA literature and registry search was conducted to identify patients with PHACE who had experienced AIS. Data were analyzed to determine age of onset, presenting signs and symptoms, and clinical features among this cohort compared with PHACE without AIS.ResultsTwenty-two individuals with PHACE and AIS were identified. Imaging of the arteries of the head and neck was reported in 20 of 22. Narrowing or nonvisualization of at least 1 great cerebral vessel was present in 19 of 20 and of those, 15 had ≥ 2 vessels involved. Aortic arch anomalies were reported in 13 of 22 individuals.ConclusionsAplasia, hypoplasia, or occlusion of a major cerebral artery appears to be a significant risk factor for AIS in children with PHACE, especially when >1 vessel is involved or if there is coarctation of the aorta.

Introduction/Background Atopic dermatitis (AD) is a chronic, inflammatory skin disease with onset usually occurring in childhood. Topical therapy is the mainstay of AD treatment and is typically used prior to systemic therapy in patients with moderate disease. Ruxolitinib (Janus kinase [JAK] 1/JAK2 inhibitor) cream is approved by the US Food and Drug Administration for patients aged ≥12 years with mild to moderate AD, and has demonstrated efficacy and was well tolerated in children (aged 2–11 y) with AD in TRuE-AD3 (NCT04921969), a phase 3, double-blind, randomized, vehicle-controlled study. Objectives Here we investigated the effects of ruxolitinib cream in a subset of patients from TRuE-AD3 with moderate and/or more extensive disease at baseline. Methods TRuE-AD3 included children aged 2–11 years with AD for ≥3 months, an Investigator's Global Assessment (IGA) score of 2 or 3, and an affected body surface area (BSA) of 3%–20%. Patients were randomized 2:2:1 to apply 1.5% ruxolitinib cream, 0.75% ruxolitinib cream, or vehicle cream twice daily for 8 weeks. Rescue treatment was not permitted. Patients from TRuE-AD3 with moderate and/or more extensive disease at baseline (defined as an IGA score of 3, ≥10% affected BSA, or a combined IGA score of 3 and ≥10% BSA) were included in this analysis. Efficacy was assessed as the proportion of patients in each treatment group who achieved IGA treatment success (IGA-TS; a score of 0 or 1 with a ≥2-grade improvement from baseline), ≥75% improvement from baseline in the Eczema Area and Severity Index (EASI-75), and ≥90% improvement from baseline in the Eczema Area and Severity Index (EASI-90) at Weeks 2, 4, and 8. Statistical significance was assessed at Week 8 using exact logistic regression. Patients with missing post-baseline data were imputed as nonresponders. Results Patients in TRuE-AD3 (N=330) had a median (range) age of 6 (2–11) years, 54.2% were girls, and 54.5% were White. The mean (SD) BSA was 10.5% (5.4%), the mean (SD) EASI was 8.6 (5.4), and 252 patients (76.4%) had a baseline IGA of 3. Among patients with an IGA of 3 at baseline, more patients who applied 1.5% ruxolitinib cream or 0.75% ruxolitinib cream versus vehicle achieved IGA-TS (40.0% and 29.1%, respectively, vs 6.1%), EASI-75 (43.0% and 38.8% vs 8.2%), and EASI-90 (17.0% and 21.4% vs 0%) at Week 2. Improvements were also observed at Week 8 (IGA-TS, 59.0% [ P <0.0001] and 37.9% [ P =0.004] vs 14.3%; EASI-75, 64.0% [ P <0.0001] and 48.5% [ P <0.0001] vs 14.3%; EASI-90, 40.0% [ P <0.0001] and 33.0% [ P =0.001] vs 8.2%), with 1.5% ruxolitinib cream consistently resulting in numerically better improvements than 0.75% ruxolitinib cream. Similar improvements were observed with ruxolitinib cream versus vehicle among patients with ≥10% affected BSA at baseline and a combined baseline IGA of 3 and ≥10% BSA. Both strengths of ruxolitinib cream were well tolerated among patients with an IGA of 3 at baseline; no serious treatment-emergent adverse events (TEAEs) were reported. Conclusions Children with moderate and/or more extensive AD in this study had substantially higher rates of clinical responses with ruxolitinib cream monotherapy versus vehicle as early as Week 2 (first assessment), with further improvement throughout the 8-week treatment period. Ruxolitinib cream was well tolerated with no serious TEAEs. [ABSTRACT FROM AUTHOR]

Numerous studies have investigated the efficacy of intralesional immunotherapy for warts, but there are a lack of studies investigating the efficacy of alternative intralesional immunotherapies following failure of initial intralesional immunotherapy. In this retrospective study, we aimed to investigate the efficacy of intralesional measles, mumps, and rubella vaccine for the treatment of pediatric warts following failure of intralesional therapy with Candida antigen. Following intralesional measles, mumps, and rubella vaccine administration, 8/51 (15.5%) patients had complete resolution of their warts, 6/51 (12%) had near complete resolution, 19/51 (37%) had partial improvement, 12/51 (23.5%) had no change, and 6/51 (12%) had worsening. Although limited by retrospective nature and low sample size, our results demonstrate that intralesional immunotherapy with measles, mumps, and rubella vaccine provides an alternative therapeutic option for the treatment of recalcitrant pediatric warts in patients who fail to respond to intralesional Candida antigen. [ABSTRACT FROM AUTHOR]

The article explains the numerous mechanisms taking place in the gene for the latent transforming growth factor-[beta] binding protein 4 (LTBP4). The mutations are shown to lead to a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, as well as dermal development in humans.