Tollefson, Megha M.

AbstractBackgroundLittle is known about skin‐related complications in Klippel–Trenaunay syndrome (KTS), a complex vascular anomaly defined by capillary malformation (CM), venous malformation (VM) ± lymphatic malformation (LM) and limb overgrowth. Reported skin‐related complications of KTS include ulceration, vascular ectasias (blebs), bleeding and infection.ObjectiveTo determine the spectrum, prevalence and predictors of skin‐related complications in KTS.MethodsA retrospective review of 410 patients fulfilling KTS criteria was performed to assess for the presence of skin‐related complications.ResultsSkin‐related complications were present in 45% of patients. Most prevalent were CM‐related complications including blebs, bleeding, thickening (25%), cellulitis (22%) and ulceration (21%). Features positively associated with skin‐related complications were presence of LM (OR 17.17; P < 0.001), VM on the buttocks/perineum/genitalia (OR 1.92; P = 0.009), CM on the feet (OR 1.77; P = 0.039) and male sex (OR 1.63; P = 0.034). Features negatively associated with skin‐related complications were CM on the trunk (OR 0.59; P = 0.029) and tissue hypertrophy of the hands (OR 0.27; P = 0.025).ConclusionSkin‐related complications affect nearly half of patients with KTS. Those with lymphatic involvement or malformation presence in the undergarment area or feet are most at risk.

AbstractBackground/objectivesStudies assessing the utility of spironolactone for treating acne in adolescent females are lacking. Thus, we sought to examine spironolactone's role in treating this patient population.MethodsA retrospective review was performed to determine the efficacy of spironolactone treatment in adolescent females seen at Mayo Clinic in Rochester, Minnesota, from 2007 to 2017.ResultsIn a cohort of 80 pediatric patients with a median age of 19 years (range, 14‐20 years), 64 patients (80%) experienced improvement of acne on treatment with spironolactone (median dose, 100 mg daily) with a favorable side effect profile. Approximately a quarter of patients (22.5%) had a complete response; more than half (58.8%) had a complete response or a partial response greater than 50%. Initial and maximal responses were observed at a median of 3 months and 5 months, respectively. Patients received treatment with spironolactone for a median duration of 7 months (range, 3‐45 months) with limited side effects.ConclusionsSpironolactone demonstrated efficacy in treating acne in adolescent females and is a safe long‐term alternative to systemic antibiotics in these patients.

Abstract BACKGROUND A number of studies have demonstrated spinal anomalies associated with Klippel-Trenaunay syndrome (KTS). To date, there are no large consecutive series examining the prevalence and subtype distribution of spinal neurovascular malformations in patients with KTS. OBJECTIVE To report the spectrum and incidence of spinal neurovascular manifestations in the KTS population. METHODS This was a cross-sectional study. Consecutive patients with definite KTS as defined by International Society for the Study of Vascular Anomalies criteria who underwent spinal neuroimaging at our institution were included. All studies were evaluated by a staff neuroradiologist and a senior radiology resident for the presence of developmental venous anomalies, cavernous malformations (CMs), and arteriovenous shunts (AVS). RESULTS A total of 116 patients with definite KTS who underwent spinal neuroimaging were included. A total of 23 neurovascular anomalies were found in 19 patients (16.4%), including 4 patients with multiple anomalies. These included 5 patients with spinal cord CMs (4.3%), 14 patients with a paraspinal or epidural venous malformation (12.1%), and 4 patients with an AVS (3.4%). Of the AVS, 3 were epidural arteriovenous fistulas, 1 of which likely formed de novo in an epidural venous malformation. One was a conus medullaris arteriovenous malformation. CONCLUSION Our study cohort of 116 KTS patients demonstrated a wide spectrum of spinal neurovascular anomalies with a relatively high prevalence. Potential phenotypic descriptions of KTS should include the possibility for spinal neurovascular anomalies.

AbstractThe 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.

AbstractA 15‐year‐old boy presented with painful ulcerations affecting the oral mucosa that were eventually attributed to marijuana vaping. In this case report, we highlight cannabis vaping as a potential cause of oral erosions due to injury and chronic inflammation of the oral mucosa.

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.

Purpose Klippel-Trenaunay syndrome (KTS) is a rare combined vascular malformation composed of capillary malformation, lymphatic and/or venous malformation and limb overgrowth, which commonly affects the extremities. Due to limb involvement, it is not uncommon for these patients to require referral to an orthopaedic surgeon. Herein we reviewed the prevalence of orthopaedic diagnoses in a large cohort of KTS patients and described the associated surgical interventions. Methods Between 1976 and 2012, 410 patients fulfilling strict criteria for KTS were evaluated at a single institution. Patient charts were reviewed for demographic information, details of the clinical evaluation, orthopaedic consultation and surgical interventions. Results A total of 264 of 410 patients (64%) with confirmed KTS required orthopaedic evaluation. Of these 264 patients, 84% had documented limb-length discrepancy. Other common diagnoses included: angular deformities (10%), scoliosis (9%), osteopenia/osteoporosis (7%), pathological fractures (6%), joint contracture (5%), degenerative joint disease (4%) and limb/joint pain (4%). Of the 264 patients evaluated by orthopaedic surgery, 133 patients (50.4%) underwent 169 surgeries. Surgery was most commonly performed for limb-length discrepancy (62%). Multivariable analysis confirmed an orthopaedic condition was more likely in patients with lymphatic malformation (odds ratio (OR) 3.78; p < 0.001), as well as in those with bone and/or soft-tissue hypertrophy of the lower extremity (OR 7.51; p < 0.001) or foot (OR 3.23; p < 0.001). Conclusion Orthopaedic conditions are common in patients with KTS and approximately 50% require surgical intervention. Those with a lymphatic malformation and/or soft-tissue hypertrophy of the lower extremity are more likely to need surgery. Level of Evidence Level IV, Descriptive Case Series