Citations

PIK3CA-related overgrowth spectrum (PROS) encompasses rare disorders characterized by vascular malformations and predisposition to thrombotic complications. COVID-19 has been associated with diverse cutaneous manifestations through endothelial dysfunction and microvascular thrombosis. We present a 33-year-old female with PROS and extensive capillary malformations who developed multiple cutaneous ulcerations on her affected right leg exclusively during COVID-19 infection in 2020, with complete resolution following recovery. Preexisting endothelial abnormalities and thrombotic predisposition in PROS may create heightened vulnerability to COVID-19-induced vascular injury, explaining why cutaneous manifestations occurred exclusively in zones of capillary malformation. This susceptibility may be mediated by the Phosphoinositide 3-kinase/ Protein kinase B/ mechanistic target of Rapamycin (PI3K/AKT/mTOR) pathway, which regulates cell growth and vascular homeostasis, is constitutively activated in PROS, and is exploited by SARS-CoV-2 during infection. Clinicians managing patients with vascular malformations should be aware of this potential interaction.

ABSTRACTBackgroundRecent data demonstrate increased incidence of Infantile hemangioma (IH) over the past several decades. However, little is known about current trends in healthcare utilization and medication prescribing in patients with IH in the United States (US), particularly since the discovery and uptake of beta‐blockers as standard of care treatment.MethodsWe examined US ambulatory visits in infants (age ≤ 1 years) with any hemangioma (International Classification of Diseases [ICD] 9th Revision codes 228.00, 228.01, or 228.09 in the National Ambulatory Medical Care Survey [NAMCS] 2009–2015, and ICD 10th Revision code D18.0 in the NAMCS 2016–2019). We further trended the prescription of topical and systemic IH treatments during this period.ResultsYears of visit were bundled into 5‐year bins to minimize standard errors for the trend tests. The number of visits related to IH significantly increased from 878,725 (95% CI: 439,376–1,318,074) in 2009–2013 to 1,431,913 (95% CI: 940,036–1,923,790, p = 0.022) in 2014–2019. The number of visits with resulting timolol prescription concurrently significantly increased from 16,279 (95% CI: 0–40,600) to 424,845 (95% CI: 380,786–468,903, p < 0.001), while the increase in the number of propranolol prescriptions was nonsignificant (from 162,323 [95% CI: 0–331,537] to 208,139 [95% CI: 0–558,709], p = 0.652).ConclusionsThe US healthcare utilization for IH has been on the rise between 2009 and 2019, likely owing to increased awareness, earlier diagnosis, and enhanced therapies. While topical beta‐blocker prescriptions have significantly increased during that period of time, systemic beta‐blocker prescription rates have not.

Atopic dermatitis affects 20% to 25% of children and has significant impact on quality of life of patients and families. Recent studies of the pathogenesis of AD highlight the interplay between a defective skin barrier, immune dysfunction, and the cutaneous microbiome. Standard of care for AD treatment includes topical corticosteroids for active disease and moisturization to repair the barrier defect. Emerging treatments include dupilumab and Janus kinase (JAK) inhibitors. Reduction of triggers and proactive treatment with topical corticosteroids and/or topical calcineurin inhibitors can reduce flares. Treatment plans should be clear and as simple as possible to maximize adherence.

ABSTRACT Orofacial granulomatosis (OFG) is a rare syndrome that can occur in association with Crohn's disease (CD). The electronic medical record was searched for “OFG” and “CD.” A total of 297 patients were identified, and relevant data were abstracted. Five patients met inclusion criteria. Most (80%) had ileocolonic CD with nonstricturing/nonpenetrating phenotype. The most common treatments included intralesional corticosteroids (4 patients), oral corticosteroids (3 patients), and anti-TNF agents, specifically infliximab (3 patients). Intralesional corticosteroid administration was followed by partial response in 3 patients, but recurrences were common following initial injection. One patient had no response to topical or oral corticosteroids, antihistamines, or oral antibiotics, but partial response to intralesional corticosteroids and infliximab. None of the patients had complete response to any therapies directed at this condition. OFG may be characterized by partial response, often requiring long-term therapy. Additional investigations into novel treatments may improve future clinical outcomes.

AbstractThis case describes a pediatric patient with a history of ichthyosis vulgaris and global anhidrosis who was diagnosed with erythema ab igne (EAI), a rare dermatosis resulting from chronic heat exposure. After developing progressive, reticulated brown patches on his extremities and abdomen, extensive diagnostic investigations were conducted to rule out autoimmune, vascular, and genetic etiologies. Bloodwork was unrevealing and biopsies showed histologic features closely resembling keratosis lichenoides chronica. Ultimately, after discovering the patient had prolonged exposure to a space heater, the diagnosis of EAI was made. This case underscores the diagnostic challenges in pediatric EAI cases and emphasizes the importance of careful history taking as part of a comprehensive evaluation.

AbstractIntroductionPediatric heart transplant patients are routinely followed in dermatology clinics due to elevated risk of cutaneous malignancy. However, transplant patients may experience other, non‐cancer‐related dermatologic conditions including skin infections, inflammatory diseases, and drug eruptions that can cause significant medical and psychosocial comorbidity.MethodsA retrospective chart review of all pediatric heart transplant patients at Mayo Clinic Children's Center in Rochester, MN, was performed to determine the prevalence and spectrum of non‐cancer dermatologic conditions. Statistical analysis was conducted to look for associations between episodes of rejection and skin condition development.ResultsOf the 65 patients who received heart transplants under the age of 18 and were followed at Mayo Clinic, 69% (N = 45) were diagnosed with at least one skin condition between transplant and the time of most recent follow‐up. Sixty‐two percent (N = 40) of patients were diagnosed with an inflammatory skin condition (most commonly acne and atopic dermatitis), 45% (N = 29) with an infectious skin condition (most commonly warts and dermatophyte infection), and 32% (N = 21) with a drug eruption (most commonly unspecified rash and urticaria). No association was found between presence of skin disease and number of rejection episodes.ConclusionsNon‐cancer dermatologic conditions are prevalent within pediatric heart transplant recipients and may directly impact their medical needs and quality of life. Dermatologist involvement in the care of post‐transplant pediatric patients is important, not only for cancer screening but also for diagnosis and treatment of common infectious and inflammatory skin conditions.

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.