Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.

We report two cases with localized vascular malformations clinically resembling the "dominant lesion" seen in capillary malformation-arteriovenous malformation (CM-AVM) syndrome, however, lacking germline RASA1 variants but presenting double somatic RASA1 variants in affected tissue. Both patients presented with localized and superficial high-flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic RASA1 variants, contributes to understanding the "second-hit" pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling.

Head and Neck Vascular Anomalies in Children.

Craniomaxillofacial vascular anomalies encompass a diverse and complex set of pathologies that may have a profound impact on pediatric patients. They are subdivided into vascular tumors and vascular malformations depending on biological properties, clinical course, and distribution patterns. Given the complexity and potential for leading to significant functional morbidity and esthetic concerns, a multidisciplinary approach is generally necessary to optimize patient outcomes. This article reviews the etiology, clinical course, diagnosis, and current management practices related to vascular anomalies in the head and neck.

Sirolimus monotherapy for Kasabach-Merritt phenomenon in a neonate; Case report.

INTRODUCTION AND IMPORTANCE: The Kasabach-Merritt Phenomenon (KMP), characterized by thrombocytopenia and consumptive coagulopathy due to endothelial cell growth in the infantile vascular tumor kaposiform hemangioendothelioma, presents a therapeutic challenge. This case highlights the novel use of sirolimus in a neonate, an approach less explored in this age group. CASE PRESENTATION: A female neonate presented with a right anterior chest mass, progressing to respiratory distress and congestive heart failure. Diagnosed with KMP, she exhibited low platelet count and coagulation abnormalities. Treatment with sirolimus (0.06 mg/day) led to mass reduction, improved bleeding, and a stable tumor after 12 months, without side effects. This case contrasts with existing literature advocating for combination therapy or higher sirolimus concentrations for effective treatment. Yet, our patient achieved favorable outcomes with low-dose monotherapy, suggesting a potentially safer approach in neonates with immature hepatic and renal metabolism. CLINICAL DISCUSSION: This case demonstrates the efficacy of low-dose sirolimus monotherapy in treating KMP in a neonate, challenging current preferences for combination therapies or higher doses. It emphasizes the need for further research into age-specific treatment protocols in KMP, considering the unique metabolic profiles of neonates and infants. CONCLUSION: Sirolimus has demonstrated potential in treating KMP in pediatric patients. While initial results are promising, determining optimal dosages and trough concentrations, especially in neonates and infants, remains essential.

Massive spinal epidural infantile hemangioma, image findings, and treatment: a case report and review of literature.

Spinal involvement of infantile hemangiomas is rare with the predilection to involve the epidural space. A proper diagnosis might be challenging due to the atypical location and variable/inconsistent use of the International Society for the Study of Vascular Anomalies (ISSVA) classification by radiologists, pathologists, and clinicians. A proper diagnosis of epidural infantile hemangioma is key due to the different aggressiveness of the treatment options with inconstant literature regarding the best available treatment. Herein, we present a case of a massive epidural infantile hemangioma successfully treated with only beta-blocker. We discuss the clinical, MRI, CT, ultrasound, and histological features of this lesion as we review the literature with the objective of addressing some of the confusion surrounding the subject.

Ovarian hemangioma: Differential diagnosis of ovarian cancer.

INTRODUCTION AND IMPORTANCE: Ovarian cavernous hemangioma is a rare benign vascular tumor primarily found as either an isolated ovarian mass or as diffuse abdominopelvic hemangiomatosis. Its discovery is often incidental, but symptomatic presentations can occur, including ovarian torsion, can occur without any specification. CASE PRESENTATION: We present the case of a 55-year-old menopausal woman with chronic pelvic pain. Initial diagnostic imaging and tumor markers suggested ovarian malignancy. Subsequent investigations, including ultrasound and MRI, revealed a vascularized adnexal mass with characteristics mimicking malignancy. Surgical exploration through laparoscopy unveiled an 8 cm multicystic solid-cystic lesion with histopathological analysis confirming a 9 cm cavernous hemangioma. CLINICAL DISCUSSION: Histologically, the lesion displayed features consistent with a benign vascular malformation. Literature review indicates variability in presentations and diagnostic challenges in distinguishing these lesions from malignant ovarian tumors. Treatment involved successful cystectomy via laparoscopic surgery, ensuring ovarian preservation so as not to increase the cardiovascular risk due to bilateral annexectomy. CONCLUSION: Ovarian cavernous hemangiomas pose diagnostic challenges due to their rarity and potential mimicry of malignancy. Timely recognition through imaging modalities, especially MRI, and confirmation via histopathological examination remain pivotal. Ovarian-sparing surgical interventions are recommended, particularly for younger patients without suspicious tumor features. Despite their rarity, awareness of these lesions is crucial for accurate diagnosis and appropriate management.

A Novel Home for Hemangiomas: Sclerosing Hemangioma in the Pancreas.

Pancreatic hemangiomas, predominantly in female patients, are rare benign vascular tumors. We report a unique case of an incidentally discovered pancreatic sclerosing hemangioma. The patient's clinical presentation and imaging were concerning for an abdominal mass. Endoscopic ultrasound and histopathology confirmed the pancreatic sclerosing hemangioma. Because there were no complications, surgery was not performed, and the patient was monitored. Biopsy confirmation is crucial to rule out malignancy and avoid unnecessary surgical resection.

Epithelioid Hemangioendothelioma of the Mastoid Bone with Extension of Middle Cranial Fossa: A Case Report.

Epithelioid hemangioendothelioma (EHE) is a rare sarcoma of vascular origin. It is frequently seen in the liver, lungs and bones. Cases with mastoid bone and intracranial extension are rarer. A 40 year old male, presented with a history of progressive headaches and a mass in the postauricular region for a duration of three months. Computer tomography of the temporal bone showed an approximately 40 × 30 mm soft tissue with osteolytic bony changes located in the mastoid bone. Epithelioid hemangioendothelioma is a rare sarcoma of vascular origin. Surgery is the first line of therapy. Prognosis is generally good, and may be better for primary intracranial disease than that for EHE originating elsewhere.

Masson's Tumor as an Uncommon Cause of Neck Mass: A Case Presentation.

BACKGROUND: Masson's tumor, commonly referred to as intravascular papillary endothelial hyperplasia (IPEH), is an uncommon growth of endothelial cells within a vessel wall that is frequently assumed to indicate an abnormal resolution of thrombosis. IPEH is most typically found in the extremities however it is rare for IPEH to appear as a neck tumor. The issue with IPEH is that it could clinically, radiologically, and pathologically imitate some malignant neoplasms such as angiosarcomas creating a diagnostic challenge. CASE REPORT: We describe a 21-year-old male patient who presented with right anterolateral neck swelling for 12 months. Ultrasound revealed a 9.0 × 8.0 cm well-defined echogenic hyper-vascular lesion. The contrast computed tomography (CT) scan of the neck revealed an oval, well-defined subcutaneous mass, measuring 9 × 4.5 cm, situated over and separable from the right sternocleidomastoid muscle with no significant enhancement in the post-contract study. T1-weighted and T2-weighted MRI revealed a 10 × 9 × 7 cm well-defined subcutaneous lobulated lesion superficial to the sternocleidomastoid expanding upward to the Rt. side of the cheek and below to the suprasternal region, eliciting an intermediate signal in T1 and a heterogenous bright signal (mostly fluid) in T2 with low signal foci within the mass. The decision had been reached to entirely excise the lesion surgically with safety margins for histological evaluation. Histological examination indicated thrombosed variable-sized ectatic vascular spaces with papillary formations related to the thrombus, covered with a single layer of flat endothelium, and no features suggestive of malignancy. There was no recurrence at 18 months follow-up post-surgery. CONCLUSION: Masson's tumor is a benign intravascular disease with an unclear origin and no confirmed inheritance pattern. Presentation of Masson's tumor as a neck mass is incredibly uncommon. Masson's tumor lacks a distinct or distinguishing clinical and radiological appearance. Histopathologic examination is the sole definitive way for diagnosing the disease and the only tool for distinguishing it from angiosarcoma. Surgical excision is the best treatment for IPEH. Recurrence is extremely rare.

A Case Study on Pyogenic Granuloma With Review of the Literature: An Unexpected Sequela or a Complication of Dental Extraction?

Pyogenic granuloma is a common reactive oral lesion primarily found in the gingiva and rarely in extraction sockets. While it can develop at any age, it is more prevalent in the third and fourth decades of life with a higher occurrence in females. Various factors contribute to its development and surgical removal is the gold standard treatment; however, there are various other methods available. This case report documents a rare event in which a female patient in her early 40s presented with an exophytic lesion affecting the extraction socket of her maxillary right lateral incisor. The lesion was effectively removed through surgical excision. Additionally, it explores the clinical features and pathogenesis of this lesion. The purpose of this case report is to shed light on the uncommon incidence of pyogenic granuloma following tooth extraction. This non-neoplastic vascular growth often presents as an erythematous, ulcerated lesion with a tendency to bleed, with either a sessile or pedunculated base. Our case is one of only five instances documented in the literature, underscoring the importance of knowledge and timely response in such unusual circumstances. We emphasize the significance of early detection and management for improved patient outcomes and a better understanding of this rare condition.

Clinical effectiveness and safety of sirolimus in pediatric patients with complex vascular anomalies: necessitating personalized and comprehensive approaches.

Background: Managing complex vascular anomalies in pediatric care requires comprehensive approaches. Sirolimus, an mTOR inhibitor with immunosuppressive and anti-angiogenic properties, offers promise. We evaluated sirolimus's effectiveness and safety in pediatric patients with complex vascular anomalies at a tertiary children's hospital. Methods: Our study included 20 patients, aged 1 month to 19 years, with diverse vascular anomalies resistant to conventional therapies or located in high-risk areas precluding surgery. The evaluation of response encompassed measuring the reduction in the size of the targeted vascular or lymphatic lesions as observed on radiologic imaging, along with considering improvements reported by the patients. Results: Patients used sirolimus for a median of 2.1 years, ranging from 0.6-4.3 years. Results indicated that 60% of patients achieved complete or partial response (CR/PR), whereas 40% had stable disease (SD). Notably, no disease progression occurred. Lesion size assessment was complex, yet patients' self-reported improvements were considered. Three patients reinitiated sirolimus after discontinuation due to worsening lesions. Sirolimus treatment demonstrated good tolerability, with minor complications except for one case of Pneumocystis jiroveci pneumonia. Group comparisons based on response highlighted better outcomes in patients with vascular tumors (CR/PR group 58.0% vs. SD group 0.0%, P = 0.015) or localized measurable lesions (83.3% vs. 12.5%, P = 0.005). Conclusion: Our study underscores sirolimus's potential for treating complex vascular anomalies in pediatric patients. Challenges associated with optimal treatment duration and concurrent interventions necessitate a comprehensive approach and genetic testing to optimize outcomes.

Rare non-trophoblastic vascular placental tumor: A diagnostic challenge.

Key Clinical Message: Pathologists should consider the differential diagnoses of placental chorioangioma, which encompass chorangiosis, chorangiomatosis, chorangiocarcinoma, intervillous thrombus, and placental infarct. Abstract: Chorioangiomas are rare non-trophoblastic vascular neoplasms of the placenta, occurring in approximately 1% of pregnancies. Large chorioangiomas (>4 cm) are infrequent and associated with an increased risk of pregnancy complications. There are limited reports in the literature regarding uncomplicated cases of large placental chorioangiomas.

Effectiveness of Pulsed Dye Laser Treatment in Tufted Angioma: A Promising Intervention.

Introduction: Tufted angioma (TA) is a rare benign vascular tumor usually occurring in the first year of life. It may present as reddish papules or purplish red to black plaques. Tender lesions commonly affect the neck, upper trunk, and shoulders. Histologic tufts of capillaries infiltrating the dermis in a "cannon ball" distribution pattern confirm the diagnosis. However, effective treatments for TA are scarce. Pulsed dye laser (PDL) is an alternative therapy for TA, particularly concerning cosmetics and pain relief. This case report demonstrates the effectiveness of PDL as a treatment for TA. Case: We report a 15-year-old girl with five-year history of painful purplish red plaques on her left cheek, neck, chest, left shoulder, and back. Histopathological examination from skin biopsy showed discrete "cannon ball" pattern in the dermis. Laboratory examination revealed normal platelet count and fibrinogen level. Based on these presentations, the diagnosis of TA without complications was made. We treated the lesion using 595-nm PDL with 6.5-10 J/cm2 fluence of, 1.5 ms pulsed duration, and 5-7 mm spot size every three weeks. Reductions in redness and pain were seen after four sessions of treatment. Discussion: PDL promotes selective vascular damage with minimal injury to the surrounding skin. Capillary tufts in TA could therefore serve as a target for laser treatment, which may result in fading redness and pain reduction. Conclusion: PDL is effective in reducing redness and pain in TA.

Five-year outcome of a staged giant Shamblin type III carotid body tumor excision.

Giant carotid body tumors, defined as those >8 cm in size, are extremely rare. Definitive surgical management is a complex undertaking because these large tumors tend to have grown to envelop cranial nerves and the carotid artery, and few data exist regarding the long-term outcomes for these patients. We present the case of a patient with bilateral giant carotid body tumors who underwent staged embolization and excision of a >10-cm carotid body tumor. After 5 years of follow-up, we demonstrated that elective open repair can provide long-term symptomatic relief. We describe and illustrate the crucial steps and considerations regarding the excision of complex Shamblin type III carotid body tumors.

Infantile hemangiomas screening modalities for primary care physicians.

Infantile hemangiomas are the most common benign vascular tumors in children. They present a characteristic natural history of spontaneous involution after a phase of initial proliferation. A small but significant minority demonstrates incomplete regression or complications and requires prompt intervention. Prediction of the evolution of infantile hemangiomas is challenging because of their morphological and behavioral heterogeneity. The decision between referral for treatment and observation is sometimes difficult, especially among non-expert physicians, with the risk of missing the period for optimizing outcomes in case of delayed intervention. The aim of this review is to update our knowledge, especially of the primary care providers, regarding the ongoing difficulties of the early clinical evaluation of infantile hemangiomas, and to outline the importance of current practical scoring tools for the identification of the lesions which require expert consultation and referral.

Solitary Fibrous Tumor of the Shoulder Metastasizing to the Small Intestine Presenting as Intussusception: A Case Report.

Solitary fibrous tumors (SFTs) are rare vascular malignancies that are rarely reported in the upper limb, and even rarer as secondary metastasis to the small bowel. We present a case of a 39-year-old male patient, a known case of metastatic SFT, presenting with severe abdominal pain and vomiting. Computed tomography showed ileo-ileal intussusception. Subsequently, he underwent surgical resection. Histopathological examination showed high-grade sarcoma of the intestinal wall, confirming small intestinal metastasis. This constitutes one of the rare cases of SFTs metastasizing to the small bowel, specifically to the ileum. A review of the literature on similar cases is presented. There appears to be a connection between upper limb SFT and bowel metastasis according to reported literature. However, the scarcity of similar reports makes the generalizability of the conclusion limited.

Laser-Assisted Vascular Malformation Resection: A Novel Surgical Approach.

Vascular malformations can be treated using sclerotherapy agents like alcohol, polidocanol, or sodium tetradecyl sulfate foam and embolization treatments. These endovascular treatments may cause severe complications as pulmonary embolism and thrombosis. 980-nm diode lasers (DLs) are common devices used by many specialties as plastic surgeons, dermatologists, and vascular surgeons. Laser energy is excellently absorbed in water and hemoglobin, which makes it ideal for adipose tissue and deep lesions. We treated our patient using a DL. Our surgical approach allowed total excision of the arteriovenous malformation (AVM), which decreased the size of the tumor allowing a smaller incision and eased the dissection plane. We believe that lasers will be used more frequently on AVM treatments.

Solitary Fibrous Tumor of Parapharyngeal Space: A Rare Case Report.

Solitary fibrous tumors are rare vascular tumours, earlier referred to as hemangiopericytoma. Their occurrence in parapharyngeal space is very rare. Hence, they should also be considered in the differential diagnosis of parapharyngeal soft tissue tumours. This case is being reported to bring out an extremely rare vascular tumour at rare site and represents a surgical challenge because of difficult access in parapharyngeal space with difficult planes between tumour and rest of parapharyngeal space, approach to it is also difficult.

Sinonasal hemangiopericytoma: A rare sinonasal tumor.

Hemangiopericytoma is a rare vascular tumor arising from pericytes and occurs very rarely in sinonasal region. A 48-year-old man with sinonasal mass presented with nasal obstruction and occasional epistaxis. Nasal endoscopy showed a readily bleeding mass in the left nasal cavity. Endoscopic removal of the mass was done. The histopathology came out to be hemangiopericytoma. The patient was kept on follow-up, and no metastasis or recurrence was seen in last 1 year. Hemangiopericytoma is a very rare vascular tumor. Surgery is the mainstay treatment of choice. A long-term follow-up is needed after surgery to rule out recurrence and metastasis.

Bridging Scales: a Hybrid Model to Simulate Vascular Tumor Growth and Treatment Response.

Cancer is a disease driven by random DNA mutations and the interaction of many complex phenomena. To improve the understanding and ultimately find more effective treatments, researchers leverage computer simulations mimicking the tumor growth in silico. The challenge here is to account for the many phenomena influencing the disease progression and treatment protocols. This work introduces a computational model to simulate vascular tumor growth and the response to drug treatments in 3D. It consists of two agent-based models for the tumor cells and the vasculature. Moreover, partial differential equations govern the diffusive dynamics of the nutrients, the vascular endothelial growth factor, and two cancer drugs. The model focuses explicitly on breast cancer cells over-expressing HER2 receptors and a treatment combining standard chemotherapy (Doxorubicin) and monoclonal antibodies with anti-angiogenic properties (Trastuzumab). However, large parts of the model generalize to other scenarios. We show that the model qualitatively captures the effects of the combination therapy by comparing our simulation results with previously published pre-clinical data. Furthermore, we demonstrate the scalability of the model and the associated C++ code by simulating a vascular tumor occupying a volume of 400mm3 using a total of 92.5 million agents.