Castelo-Soccio, Leslie

AbstractBackground/ObjectivesPatients with rare diseases are challenged when it comes to finding physicians with expertise in their condition. The Foundation for Ichthyosis and Related Skin Types (FIRST) Tele‐Ichthyosis program has provided telemedicine for patients and their families with keratinizing disorders since 2009. This study aims to characterize a decade of experience with the program.MethodsThis retrospective cohort study analyzed cases for demographics of patients and the clinicians who submitted their cases, nature of questions asked, number of expert responses, and characteristics of responses. Surveys were sent electronically to all users of the FIRST Tele‐Ichthyosis service to assess experiences with the service and solicit constructive recommendations. Descriptive statistics were performed on the case review and responder surveys.ResultsEighty‐eight geographically diverse cases were reviewed showing increased use over time by various specialists for patients of all ages. Sixty‐six percent of cases were definitively ichthyosis, and most submitters queried on diagnosis (47%) or treatment (72%). Most submitters described the service as easy to use (66.6%) and advice as timely (61.1%), clear (66.6%), and beneficial (61.1%). All submitters made suggestions for improvement (100%). Experts predominately worked with pediatric populations (70%) and reported self‐motivation to volunteer and improve patients’ lives (100%). Experts found technological barriers minor and provided feedback to enhance the service.ConclusionsThis report highlights how a rare‐disease patient advocacy group successfully supports physician collaboration and patient outcomes through secure and efficient telemedicine. Lessons learned are highly relevant in the current healthcare environment.

AbstractBackground/ObjectivesThe COVID‐19 pandemic has raised questions about the approach to management of systemic immunosuppressive therapies for dermatologic indications in children. Change to: Given the absence of data to address concerns related to SARS‐CoV‐2 infection and systemic immunosuppressive therapies in an evidence‐based manner, a Pediatric Dermatology COVID‐19 Response Task Force (PDCRTF) was assembled to offer time‐sensitive guidance for clinicians.MethodsA survey was distributed to an expert panel of 37 pediatric dermatologists on the PDCRTF to assess expert opinion and current practice related to three primary domains of systemic therapy: initiation, continuation, and laboratory monitoring.ResultsNearly all respondents (97%) reported that the COVID‐19 pandemic had impacted their decision to initiate immunosuppressive medications. The majority of pediatric dermatologists (87%) reported that they were pausing or reducing the frequency of laboratory monitoring for certain immunosuppressive medications. In asymptomatic patients, continuing therapy was the most popular choice across all medications queried. The majority agreed that patients on immunosuppressive medications who have a household exposure to COVID‐19 or test positive for new infection should temporarily discontinue systemic and biologic medications, with the exception of systemic steroids, which may require tapering.ConclusionsThe ultimate decision regarding initiation, continuation, and laboratory monitoring of immunosuppressive therapy during the pandemic requires careful deliberation, consideration of the little evidence available, and discussion with families. Consideration of an individual's adherence to COVID‐19 preventive measures, risk of exposure, and the potential severity if infected must be weighed against the dermatological disease, medication, and risks to the patient of tapering or discontinuing therapies.

AbstractBackgroundSystemic sirolimus (rapamycin) has recently been found effective in treating complex vascular anomalies by reducing the size and associated complications. Many vascular anomalies have a cutaneous component, and thus, we sought to determine whether topical administration of sirolimus may be an effective therapy, as data on the use of topical sirolimus are limited.ObjectiveWe reviewed the efficacy and tolerability of topical formulations of sirolimus in the treatment of various simple and combined vascular malformations and tumors.MethodsEighteen patients with any vascular anomaly treated exclusively with topical sirolimus were retrospectively reviewed.ResultsEleven patients had combined venous lymphatic malformations, three had tufted angiomas, two had a lymphatic malformation, one had a venous malformation, and one had a verrucous venous malformation. All (100%) patients reported some degree of improvement and 50% of patients reported marked improvement in one or more symptoms, most commonly blebs and lymphatic drainage, and bleeding.LimitationsThe retrospective nature, small number of patients, and differences in topical preparations limit the broad application of the results.ConclusionTopical sirolimus appears to be a safe and useful non‐invasive therapy that is well‐tolerated in the treatment of the cutaneous portion of a variety of vascular anomalies.