UNASSIGNED: Vascular anomalies (VAs) constitute a heterogeneous group of tumors and malformations capable of inducing significant clinical events in specific patients, such as the compression of vital organs, pain, functional impairment, or acquired coagulopathy. Molecular investigations into the underlying mechanisms of VAs have unveiled the frequent involvement of the PI3 K/AKT/mTOR pathway. Sirolimus, a specific mTOR inhibitor, has emerged as a potential therapeutic agent; however, its routine clinical application in complex VAs is currently restricted by a lack of extensive clinical experience.
UNASSIGNED: Between 2015 and 2024, we administered sirolimus to 14 pediatric patients with various types of vascular anomalies in two Italian centers, subjecting them to clinical and instrumental follow-up to investigate its efficacy and the possible occurrence of adverse events.
UNASSIGNED: An overall improvement in or stability of their vascular anomalies was reported by 86% of patients. We also assessed toxicity, noting a low prevalence of life-threatening adverse events: only one case of sepsis was reported in a patient with a severe clinical condition, and four cases of recurrent aphthosis (28%) were reported. The most common side effect was dyslipidemia, with 43% of patients developing hypercholesterolemia (21%) or hypertriglyceridemia (21%), although these patients generally did not reach severe levels.
UNASSIGNED: In line with data in the literature, according to our experience, medical therapy with sirolimus should be considered in pediatric patients affected by vascular anomalies.

Cirsoid aneurysms, formerly identified as arteriovenous malformations (AVMs), represent infrequent vascular anomalies primarily localized within the scalp. These anomalies are typified by the absence of interposing capillaries, giving rise to extensively vascularized, expanded conduits connecting arterial feeders and venous outflows. This report details a case of a 13-year-old male afflicted with a cirsoid aneurysm in the scalp, who presented with swelling on the left frontal region, accompanied by headache and pulsatile sensations. Definitive diagnosis was achieved through radiological and histopathological examinations. Scalp cirsoid aneurysms may either be congenital in nature or arise following traumatic incidents, with clinical manifestations typically surfacing in the third decade of life. Common clinical presentations encompass a palpable, pulsatile subcutaneous mass, throbbing headaches, tinnitus, and cosmetic concerns. Diverse therapeutic strategies, including surgical excision, endovascular embolization, and percutaneous injection of sclerosing agents, can be employed contingent upon the particular characteristics of the lesion.

The subclavian steal syndrome (SSS) is defined by the reversal of flow in the ipsilateral vertebral artery in the setting of subclavian artery stenosis proximal to its origin. Here, we describe a rare case of left SSS with significant left subclavian artery stenosis associated with anomalous origin of the left vertebral artery (LVA) directly from the aortic arch in a patient presenting with signs of vertebrobasilar insufficiency and resolution of symptoms following angioplasty. Through this case, the authors try to emphasize the importance and the correct technique of using Doppler ultrasonography, and the importance of invasive angiography in understanding the mechanism of subclavian steal in patients with anomalous LVA origin.

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UNASSIGNED: Patients with complex rare disorders often require the care of multiple specialists. Effective coordination between primary and specialty care is needed to ensure patients receive high-quality care. Previous research has documented the importance of primary care clinicians providing referrals to specialty care and the importance of specialists in helping patients reach a diagnosis. However, little is known about primary care clinicians\' roles in the ongoing care of patients with rare disorders. In the current study, we explored the role of primary care clinicians in the care of rare and complex vascular anomalies.
UNASSIGNED: Data were collected using semi-structured qualitative interviews with 34 parents and 25 adult patients recruited from advocacy groups for patients with complex vascular anomalies participated. We asked participants about their diagnosis, care experiences, and communication with clinicians. We used thematic analysis to identify themes illustrating the roles of primary care clinicians.
UNASSIGNED: PCC roles were characterized by four behaviors. Supporting behaviors included learning more about vascular anomalies and asking participants about the care they received from specialists. Facilitating included providing referrals, ordering tests, and engaging in problem-solving. Interfering included failing to provide referrals or help participants coordinate care, ordering incorrect tests, or making inappropriate recommendations. Disregarding included focusing narrowly on primary care needs and not showing concern about the vascular anomaly.
UNASSIGNED: The results reveal opportunities to improve primary care for patients with vascular anomalies. Disregarding and interfering behaviors furthered the division between primary and specialty care for patients with vascular anomalies and prevented patients from receiving comprehensive primary care. Supporting and facilitating behaviors convey genuine interest in the care of the vascular anomaly and a commitment to helping the patient and parent.

Apart from listening to the cry of a healthy newborn, it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents. The global incidence of children born with congenital anomalies has been reported to be 3%-6% with more than 90% of these occurring in low- and middle-income group countries. The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons. These children are operated under several surgical disciplines, viz, paediatric-, plastic reconstructive, neuro-, cardiothoracic-, orthopaedic surgery etc. These conditions may be life-threatening, e.g., trachea-oesophageal fistula, critical pulmonary stenosis, etc. and require immediate surgical intervention. Some, e.g., hydrocephalus, may need intervention as soon as the patient is fit for surgery. Some, e.g., patent ductus arteriosus need \'wait and watch\' policy up to a certain age in the hope of spontaneous recovery. Another extremely important category is that of patients where the operative intervention is done based on their age. Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery (many as multiple stages of correction) at appropriate ages. There are advantages and disadvantages of intervention at different ages. In this article, we present a review of optimal timings, along with reasoning, for surgery of many of the common congenital anomalies which are treated by plastic surgeons. Obstetricians, paediatricians and general practitioners/family physicians, who most often are the first ones to come across such children, must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.

This narrative review aims to summarise the classification of vascular anomalies, their clinical presentation, and their radiological features to propose a diagnostic algorithm to approach patients with suspected soft tissue vascular anomalies of the extremities. The management of vascular anomalies necessitates a multidisciplinary approach. Clinical presentation and physical examination are sufficient in most cases to achieve a correct diagnosis. This is especially true for small congenital lesions of the skin and subcutaneous tissue. Imaging is used for accurate characterization of these lesions, especially in cases of atypical or vague clinical presentation, and to assess extension in cases of lesions that are larger and localized in deeper tissues.

Uterine arteriovenous malformation (AVM) is a rare but serious condition that can cause heavy uterine bleeding. It occurs when abnormal connections form between the arteries and veins in the uterus, leading to significant health complications. Accurate identification and diagnosis are crucial because overlooking or mishandling them can lead to severe, life-threatening bleeding. We present the case of a 30-year-old patient presenting with abnormal uterine bleeding 15 days after she gave birth to her second child. The ultrasound examination showed images suggestive of retained ovuloplacental remnants, so a uterine aspiration was performed, but the patient presented severe vaginal bleeding. Subsequently, magnetic resonance imaging (MRI) was performed, demonstrating the presence of a prominent lesion in the posterior wall of the uterine body with multiple serpentine-like pathways and a signal void suggestive of aberrant vessels corresponding to AVMs. Ergotrate and misoprostol were administered to control the bleeding, and a Bakri balloon was inserted and maintained until the bleeding stopped. We are highlighting this case to emphasize the importance of considering uterine AVM (UAVM) when dealing with abnormal uterine bleeding, even in the postpartum period. Due to its rarity, there is a lack of substantial evidence to guide clinicians in managing this condition.

UNASSIGNED: Vascular anomalies are a spectrum of disorders, including vascular tumors and malformations, that often require multispecialty care. The rarity and variety of these lesions make diagnosis, treatment, and management challenging. Despite the recognition of the medical complexity and morbidity associated with vascular anomalies, there is a general lack of education on the subject for pediatric primary care and subspecialty providers. A needs assessment and the lack of an available standardized teaching tool presented an opportunity to create an educational workshop for pediatric trainees using the POGIL (process-oriented guided inquiry learning) framework.
UNASSIGNED: We developed a 2-hour workshop consisting of an introductory didactic followed by small- and large-group collaboration and case-based discussion. The resource included customizable content for learning assessment and evaluation. Residents completed pre- and posttest assessments of content and provided written evaluations of the teaching session.
UNASSIGNED: Thirty-four learners in pediatrics participated in the workshop. Session evaluations were positive, with Likert responses of 4.6-4.8 out of 5 on all items. Pre- and posttest comparisons of four content questions showed no overall statistically significant changes in correct response rates. Learners indicated plans to use the clinical content in their practice and particularly appreciated the interactive teaching forum and the comprehensive overview of vascular anomalies.
UNASSIGNED: Vascular anomalies are complex, potentially morbid, and often lifelong conditions; multispecialty collaboration is key to providing comprehensive care for affected patients. This customizable resource offers a framework for trainees in pediatrics to appropriately recognize, evaluate, and refer patients with vascular anomalies.

UNASSIGNED: Arteriovenous malformation (AVM) is a rare condition affecting less than 5/10,000 people, with high misdiagnosis due to its heterogeneity, inconsistent nomenclature, and diverse diagnostic criteria. Understanding its prevalence in this age group is crucial for effective treatment. Here we present a case report of a patient with AVM. IRB approval and patient consent were obtained. This study was done based on SCARE criteria.
METHODS: A 53-year-old female patient was diagnosed with a right hip vascular mass suggestive of AVM. The patient reported painless swelling on the right hip for five years, initially increasing in size but significantly increasing in the last six months. The patient had no history of trauma, neurological or pelvic symptoms, or constitutional symptoms. An examination of the lower limbs revealed a firm, non-tender mass measuring approximately 15 × 15 cm. A thigh MRI revealed a sizable, well-rounded, lobulated soft tissue mass with a stromal structure and pronounced vascularity, indicative of a soft tissue tumor.
UNASSIGNED: AVMs misdiagnosis is a significant issue, with 40 % of soft tissue sarcomas still misdiagnosed delaying care and leading to unnecessary measures. A 2015 study found 42.5 % of AMV patients were misdiagnosed, and 71 % were misdiagnosed as hemangiomas. Management involves multidisciplinary approaches, including radiology, sclerotherapy, surgical resection, and chemo/radiotherapy. Sirolimus may improve AVM prognosis.
CONCLUSIONS: Misdiagnosis of AVMs is a significant issue, with 40 % of soft tissue sarcomas still misdiagnosed. Management involves multidisciplinary approaches, including interventional radiology, sclerotherapy, surgical resection, and chemo/radiotherapy.