Tollefson, Megha M.

Abstract Background Capillary lymphatic venous malformations (CLVM) and associated syndromes, including Klippel–Trenaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal, and spinal syndrome (CLOVES), are underrecognized disorders associated with high morbidity from chronic pain, recurrent infections, bleeding, and clotting complications. The rarity of these disorders and heterogeneity of clinical presentations make large‐scale randomized clinical drug trials challenging. Identification of PIK3CA (phosphatidylinositol‐4,5‐bisphosphate 3‐kinase catalytic subunit alpha [gene]) mutations in CLVM has made targeted medications, such as sirolimus, attractive treatment options. The aim of this study was to investigate the safety and efficacy of sirolimus therapy in CLVM. Procedure A combined prospective and retrospective cohort of pediatric and young adult patients with CLVM treated with sirolimus was evaluated for disease response, including symptom improvement, quality of life (QOL), and radiologic response. Sirolimus dosing regimens and toxicities were also assessed. Results Twenty‐nine patients with CLVM, including KTS and CLOVES, were included. Ninety‐three percent of patients reported improved QOL, and 86% had improvement in at least one symptom. Most significantly, improvement was noted in 100% of patients with bleeding and 89% with thrombotic complications with corresponding decreases in mean D‐dimer ( p = .008) and increases in mean fibrinogen ( p = .016). No patients had progressive disease on sirolimus. Most common side effects included neutropenia, lymphopenia, infection, and aphthous ulcers/stomatitis. No toxicities were life‐threatening, and none required long‐term discontinuation of sirolimus. Conclusion Sirolimus appears to be effective at reducing complications and improving QOL in patients with CLVM and associated syndromes. In this patient cohort, sirolimus was well tolerated and resulted in few treatment‐related toxicities.

Background: Percutaneous image-guided thermal ablation has emerged as a treatment option for vascular malformations (VM). However, prospective data on intermediate to long-term effectiveness with uniform follow-up are lacking. Purpose: To prospectively evaluate the 12-month pain severity and pain interference outcomes following percutaneous MRI-guided laser ablation and cryoablation of focal painful, peripheral soft tissue VM. Materials and Methods: Participants undergoing clinically indicated MRI-guided laser ablation and cryoablation for focal painful (worst pain ≥4 out of 10 on Visual Analog Scale), peripheral soft tissue vascular malformations (VM) were enrolled in an IRB-approved prospective, observational study after giving informed consent. Participants completed the Brief Pain Inventory questionnaire prior to ablation and 1, 3, 6, and 12-month postablation. Differences in pain severity and interference outcomes from baseline on a 0 to 10 scale were compared using a paired t-test. Results: Seventeen participants (15 female; mean age 28.3 ± 9.3 years) underwent 24 MRI-guided and monitored ablation sessions including laser (n = 21), cryoablation (n = 2), or both (n = 1) for treatment of painful slow-flow (n = 16) or high-flow (n = 1) VM. Median maximal VM diameter was 5.7 cm (range 1.1 to 31.0 cm). Mean (±SD) preablation worst pain score was 7.9 ± 1.4. There was a significant decrease in worst pain at 1-month postablation (–3.5 ± 2.9; P = .0007) that was sustained at 3 (–3.4 ± 3.2; P = .0007), 6 (–4.2 ± 3.6; P = .0003), and 12 months (–3.6 ± 3.9; P = .002), with similar results for average, current, and least pain scores. There was a significant improvement in pain interference outcomes at 12-month postablation: general activity (P = .018), walking ability (P = .008), work (P = .003), sleep (P = .007), and enjoyment of life (P = .033). Conclusions: These data suggest that MRI-guided and monitored thermal ablation is safe and provides early and sustained significant improvements in pain severity and pain interference outcomes during the first year of follow-up in participants with focal painful peripheral soft tissue VM.

AbstractTumor necrosis factor‐alpha inhibitor therapy for inflammatory bowel disease may be associated with paradoxical cutaneous adverse events, most commonly psoriasiform eruptions. We present the case of a pediatric female patient with Crohn's disease who developed multiple concurrent cutaneous eruptions while on infliximab treatment, including morphea, psoriasiform dermatitis, and genital lichen sclerosus. Although refractory to skin‐directed treatments, all three conditions resolved upon discontinuation of infliximab, supporting their development as a paradoxical reaction to infliximab therapy.

AbstractBackground/ObjectivesPediatric lichen planus (LP) is rare with variable prevalence and atypical presentations compared to adults. Data on LP are lacking for the pediatric population in the United States. We present demographics, presentations, and treatments for a pediatric LP cohort.MethodsWe reviewed 26 patients diagnosed with LP at 20 years or younger. Treatment responses were defined as no response, partial response, and complete response.ResultsDemographics included 54% females and median diagnosis age of 16 years (range 6–20). Most patients presented with cutaneous LP (65%), with fewer having associated oral (23%), nail (7.7%), or genital (3.8%) involvement. Some had cutaneous‐only LP (38%) or strictly mucosal LP (oral‐only 19% and genital‐only 15%). LP lesions were pruritic (50%), painful (19%), and/or asymptomatic (35%). Complete/partial responses occurred with medium‐potency topical corticosteroids in cutaneous (n = 7; 64%), oral (n = 3; 75%), and genital LP (n = 3; 100%), with high/ultra‐high potency topical corticosteroids in oral LP (n = 6; 86%), and with topical calcineurin inhibitors in genital LP (n = 2; 100%). Side effects were clobetasol‐related oral candidiasis and biopsy‐related penile depressed scar. Most patients with available follow‐up achieved remission (n = 17; 81%).ConclusionsPediatric LP usually presents in adolescence with cutaneous involvement and is symptomatic. However, patients frequently can have oral, genital, or nail lesions or may be asymptomatic, so they need thorough examinations and follow‐up. Long‐term remission is common due to treatment or natural disease course. Medium‐potency corticosteroids are recommended for cutaneous, oral, and genital LP. Various other local and systemic therapies exist with successful treatment responses.

AbstractPsoriasis is a chronic, inflammatory skin disorder with manifestations extending beyond visual presentation to encompass psychological burden. Though the association between psoriasis and mental health disorders in adults is widely accepted, there is inadequate research to generalize these findings to pediatric populations. In this review of the literature, we discuss the prevalence of anxiety and depression among pediatric patients with psoriasis in hopes of raising awareness of these associations and advocating for psychological screening and intervention in dermatology practice.

AbstractBackground/ObjectivesThe COVID‐19 pandemic prompted a rapid expansion in the use of telemedicine. This study aimed to assess the experiences of hemangioma specialists utilizing telemedicine during the COVID‐19 pandemic to evaluate and manage infantile hemangiomas (IH), including perceived effectiveness of different modalities and barriers to care delivery.MethodsMulticenter cross‐sectional study asking providers to describe their experiences using telemedicine for initial evaluation of IH from March to September 2020.ResultsThe study included 281 patients from 15 medical centers internationally. Median time from referral to evaluation was 17 days. Median physician confidence in performing evaluations via telemedicine was 95.0 (IQR 90.0–100.0). Most evaluations were performed via video communication with photographs or audio communication with photographs; when not initially available, photographs were requested in 51.4%. Providers preferred follow‐up modalities that included photographs.ConclusionsPhysicians with extensive expertise in managing IH are confident in their abilities to assess and manage IH via telemedicine including initiating treatment in patients without risk factors for beta‐blocker therapy. There was a preference for hybrid modalities that included photographs. The data suggest that telemedicine can be effective for managing IH and may decrease wait times and improve specialist reach to underserved areas.

Importance Although isotretinoin may rarely be associated with laboratory abnormalities such as hypertriglyceridemia, the optimal approach to laboratory monitoring is uncertain, and there is wide variation in clinical practice. Objective To establish a consensus for isotretinoin laboratory monitoring among a diverse, international cohort of clinical and research experts in acne. Design, Setting, and Participants Using a modified electronic Delphi process, 4 rounds of anonymous electronic surveys were administered from 2021 to 2022. For laboratory tests reaching consensus (≥70% agreement) for inclusion, questions regarding more time-specific monitoring throughout isotretinoin therapy were asked in subsequent rounds. The participants were international board-certified dermatologist acne experts who were selected on a voluntary basis based on involvement in acne-related professional organizations and research. Main Outcomes and Measures The primary outcome measured was whether participants could reach consensus on key isotretinoin laboratory monitoring parameters. Results The 22 participants from 5 continents had a mean (SD) time in practice of 23.7 (11.6) years and represented a variety of practice settings. Throughout the 4-round study, participation rates ranged from 90% to 100%. Consensus was achieved for the following: check alanine aminotransferase within a month prior to initiation (89.5%) and at peak dose (89.5%) but not monthly (76.2%) or after treatment completion (73.7%); check triglycerides within a month prior to initiation (89.5%) and at peak dose (78.9%) but not monthly (84.2%) or after treatment completion (73.7%); do not check complete blood cell count or basic metabolic panel parameters at any point during isotretinoin treatment (all >70%); do not check gamma-glutamyl transferase (78.9%), bilirubin (81.0%), albumin (72.7%), total protein (72.7%), low-density lipoprotein (73.7%), high-density lipoprotein (73.7%), or C-reactive protein (77.3%). Conclusions and Relevance This Delphi study identified a core set of laboratory tests that should be evaluated prior to and during treatment with isotretinoin. These results provide valuable data to guide clinical practice and clinical guideline development to optimize laboratory monitoring in patients treated with isotretinoin.

AbstractA 17‐year‐old Caucasian boy presented with progressive left‐sided weakness, transient slurred speech, and skin lesions characterized by 3‐5 mm, pink, asymptomatic papules with white atrophic centers on his central abdomen, back, and lower extremities. Skin biopsy confirmed the diagnosis of malignant atrophic papulosis, a rare vasculopathy that leads to the occlusion of small‐ and medium‐sized arteries. He was treated with cyclophosphamide, eculizumab, treprostinil, pentoxifylline, heparin, and acetylsalicylic acid. Despite the aggressive immunosuppression, humanized monoclonal antibodies, and antiplatelet therapy, he died two months after presentation. We report this case to highlight diagnostic features, as well as to highlight the importance of early diagnosis and treatment.

Objective: Vascular malformations are benign vascular anomalies characterized by abnormally developed arterial, venous, and lymphatic structures, which are often symptomatic. Historical and current treatment techniques include intravascular embolization/sclerosis and surgical resection. While these techniques have proven to be successful at managing and treating these types of lesions, these techniques are not without risk, especially in the small spaces of the hands and feet. Cryoablation for the treatment of low-flow vascular malformations is a new and evolving technique. We present five cases of symptomatic pedal vascular malformations treated with MR guided cryoablation, which provides encouraging safety and feasibility results for these difficult to treat lesions. Methods: A retrospective review of patients who had undergone MR-guided cryoablation of their pedal vascular malformations between January 2016 and January 2020 was performed. Results: Five cryoablations were completed without immediate complication. All patients reported markedly decreased pain corresponding to the treated area and improvement in their ability to return to a more active lifestyle. Two patients experienced mild transient numbness which resolved by 2–3 months and one patient experienced a transient motor and sensory neuropathy which resolved by 6 months. Conclusion: We present five cases of successful MR-guided cryoablation of symptomatic pedal venous malformations. Many of the patients included in this review failed conservative and other interventional/surgical treatments. The treatment options for this patient cohort can be limited given small space within the plantar aspect of the foot. Cryoablation of these lesions can be performed safely especially under continuous MRI monitoring. Level of Evidence: Case series (Level 4)