Search Results (55)

Background/Objectives: This study aims to identify baseline imaging parameters, across various imaging modalities, that can predict the response to bleomycin sclerotherapy in patients with head and neck lymphatic–venous malformations (LVMs). Methods: A retrospective analysis of 80 patients (85 lesions) treated at a tertiary care center between January 2018 and December 2022 was conducted. Imaging modalities, including CT, MRI, ultrasonography, and dynamic digital radiographic images, were reviewed for lesion characteristics. Factors including lesion type, volume, morphology, location, and contrast opacification patterns were analyzed for their association with treatment response, defined as a >50% reduction in lesion size and symptom improvement. Univariable and multivariable logistic regression analyses were performed. Results: Of 85 lesions, 45 (52.9%) responded to treatment. Univariable analysis showed that pure lymphatic malformations (OR = 6.12, p = 0.004), macrocystic components (OR = 10, p = 0.016), cavitary morphology on dynamic digital radiographic images (OR = 8.90, p < 0.001), neck location (OR = 4, p = 0.03), and deep-seated lesions (OR = 3.69, p = 0.03) were significantly associated with better outcomes. Multivariable analysis identified cavitary morphology as the strongest predictor (p = 0.04). A combination of cavitary morphology, macrocystic components, and pure LM type yielded the highest predictive accuracy (AUC = 0.80, p = 0.03). Conclusions: The presence of lymphatic channels or large cystic venous spaces—such as macrocystic features on imaging or cavitary morphology—along with neck or deep-seated lesion location, predicts a favorable response to bleomycin sclerotherapy in head and neck LVMs. Full article

A four-year-old female patient was admitted for evaluation after a mass on the right side of her neck was noticed during straining (Valsalva maneuver). The family first observed the mass when the patient was one year old, and noted that it gradually increased in size over time. A family history assessment revealed no known genetic disorders. The patient underwent neck ultrasonography and computed tomography angiography (CTA), which revealed two aneurysms in a right-sided communicating vein. One aneurysm was located above the jugular notch, and the other was located in the retro-parotid region. The presence of two venous aneurysms in a right-sided communicating vein—one above the jugular notch and the other in the retro-parotid region—suggests a rare and apparently benign congenital anomaly. The progressive enlargement of these malformations warrants close monitoring and surgical intervention, and long-term follow-up may be necessary to prevent complications such as thrombosis, rupture, or compression of adjacent structures. Full article

Background/Objectives: Vascular anomalies represent a complex group of conditions including vascular malformations and haemangiomas. Haemangiomas are benign tumours that have an endothelial origin. In contrast, vascular malformations are characterized by the abnormal dilation of vessels without proliferation. Depending on the extension of the disease, there is a higher risk of life-threatening haemorrhages that may occur during simple dental procedures. The aim of this case report is to present the interdisciplinary treatment for patients with venous malformation and to discuss the possible dental management of these patients. Methods: A 66-year-old male patient with an extensive venous malformation of the head and neck was referred for a tooth extraction. The venous malformation involved lips, buccal mucosa, tongue, and floor of the oral cavity. Its proximity to the tooth requiring extraction was associated with a high risk of severe bleeding. Results: Prior to the treatment, CBCT and CT scans were performed to confirm the extensions of the lesion and visualise its margins. Considering the possible risks related with venous malformation, the procedure consisted of tooth removal in a hospital setting with control over severe bleeding complications. Conclusions: The presence of an extensive vascular malformation in the head and neck region is burdened with a higher risk of haemorrhages during simple dental procedures. The radiological and clinical planning enables the choice of an accurate treatment strategy to avoid possible difficulties. In cases where such complications cannot be avoided, it is important to perform the treatment in a hospital setting with the cooperation of maxillofacial surgeons. Full article

Background: This systematic review aims to evaluate the relationship between craniocervical posture and sagittal skeletal malocclusions, focusing on cervical curvature, head posture, and the influence of skeletal classification on craniofacial development. Methods: A comprehensive electronic search was conducted across PubMed, Scopus, and Web of Science for studies published between January 2015 and January 2025. Studies meeting the PICOS criteria, which assessed craniocervical posture in individuals with skeletal Class I, II, or III malocclusions, were included. A total of 12 studies were reviewed and analyzed for relevant data. Results: Significant correlations were identified between sagittal skeletal malocclusions and craniocervical posture, particularly cervical curvature. Class II malocclusion was associated with increased cervical curvature and forward head posture, whereas Class III malocclusion was linked to straighter cervical columns and a more posterior head position. Variations in cervical vertebral morphology were also observed, especially in relation to head posture and craniofacial structure. However, considerable heterogeneity was noted among studies regarding sample populations, measurement techniques, and classification criteria. Conclusions: This review highlights a strong interrelationship between craniocervical posture and sagittal skeletal classification, with potential clinical implications for orthodontic diagnosis and treatment planning. Further longitudinal studies are needed to establish causal relationships and improve orthodontic management strategies. Full article

Background: According to the ISSVA 2018 classification, arteriovenous malformations (AVMs) are high-flow vascular malformations, distinct from low-flow lesions. About 60% of extracranial AVMs occur in the head and neck, making their management a focus of maxillofacial surgery. Due to their complexity, precise diagnosis and careful treatment planning are crucial for optimal aesthetics and structural preservation. The standard approach combines embolization with surgical resection, though Bleomycin electrosclerotherapy (BEST) has recently gained recognition. Methods: From July 2023 to December 2024, a total of 16 patients with vascular malformations were treated with bleomycin electrosclerotherapy at the Azienda Ospedaliera Universitaria Senese (AOUS). Among them, two patients were affected by arteriovenous malformations. These two patients underwent this treatment to avoid more invasive and demolitive procedures, considering the anatomical region involved. Both patients had previously been treated at other hospitals, experiencing subsequent lesion recurrence. Preoperative evaluation included angiographic and ultrasound studies. The patients underwent electrosclerotherapy sessions and were closely monitored during follow-up. The uniqueness of this innovative approach lies in the use of fractionated doses of bleomycin for each treatment session, compared to the standard protocols described in the literature. Results: BEST has demonstrated efficacy in the treatment of high-flow AVMs by delivering bleomycin into the interstitial tissue and subsequently applying electroporation so the drug’s effects can be precisely localized and amplified. The macroscopically evident results, patient satisfaction, and, most importantly, the objective ultrasound flow data demonstrate the effectiveness of this treatment. Conclusions: Arteriovenous malformations (AVMs) pose treatment challenges due to their variability and lack of standardized guidelines. This study explores electrosclerotherapy with bleomycin in two head and neck AVM cases, using fractionated doses to enhance safety and efficacy. The findings support its potential as a minimally invasive alternative, warranting further research on broader applications. Full article

Sturge–Weber Syndrome (SWS) is a rare neurocutaneous disorder caused by a somatic nonsynonymous mosaic mutation most commonly in the GNAQ gene (G protein guanine Nucleotide-binding protein Alpha subunit q). SWS is characterized by capillary-venous malformations in the brain and eyes and a characteristic facial port wine (PW) birthmark (previously called port wine stain/PWS) in the head/neck region. Clinical manifestations vary and include epilepsy, stroke-like episodes, migraine headaches, cognitive delays, glaucoma, ocular vascular anomalies, heterochromia of the iris, visual field defects, and endocrine disorders like growth hormone deficiency or central hypothyroidism. The pathognomonic findings seen in neuroimaging with magnetic resonance imaging (MRI) include the presence of unilateral intracranial leptomeningeal angiomatosis, typically ipsilateral to the facial birthmark. SWS does not currently have a definitive cure, and management strategies focus on symptomatic management such as anti-seizure medications, limited surgical resection of the epileptogenic tissue or hemispherectomy for cases of drug-resistant epilepsy (DRE), selective photo-thermolysis of the PWS using a pulsed dye laser, and the medical and/or surgical management of glaucoma. In addition to these symptomatic treatments, the use of preventive, modifying, or stabilizing treatments like low-dose aspirin in reducing the frequency and severity of seizures and stroke-like events and the use of newer therapies like cannabidiols and mTOR inhibitors are being reviewed and have shown promising early results. This comprehensive narrative review summarizes the current literature on clinical management strategies, ongoing research studies, and future directions in the diagnosis and management of SWS. Full article

Background/Objectives: Port-wine stains (PWSs), also known as naevus flammeus or capillary malformations, are congenital cutaneous lesions, typically located in the head/neck area. The manifestations of PWSs include aesthetic and functional impairments due to soft and hard tissue modifications. Sturge–Weber syndrome is characterised by additional neuro-ocular manifestations. This systematic review aimed to identify and overview the orodental manifestations of PWSs. Methods: Several databases (PubMed, Web of Science, Scopus, Embase, Cochrane Library) were searched using keywords for PWSs and oral and dental manifestations. The results were centralised, deduplicated, and selected in a two-step sequence. Data were extracted using pre-defined extraction forms and represented graphically and tabulated. The Newcastle–Ottawa and Joanna Briggs Institute scales were used for quality assessment. Results: Out of 884 results, 43 studies were selected for inclusion. Eleven studies investigated patients diagnosed with PWSs, while thirty-two studies investigated SWS patients. Regarding study designs, eight studies were retrospective, one was cross-sectional, two were case series, and thirty-two were case reports. The most frequently mentioned manifestations were gingival hypertrophy, lip hypertrophy, mucosal or gingival staining, malocclusion, gingivitis or gingival bleeding, and facial asymmetry. Conclusions: Due to the rarity of this pathology, the orodental manifestations of PWSs are not widely known to dentists. Soft tissue hypertrophy, malocclusion, and bony hypertrophy are significant concerns that need to be addressed during treatment. Full article

Lymphatic malformations (LMs) are benign, congenital vascular anomalies caused by abnormal lymphangiogenesis during embryology, often presenting as fluid-filled cystic lesions. Though LMs can affect any part of the body except the brain, they primarily manifest in the head and neck or axilla regions of children. With a prevalence of approximately 1 in 4000 births, LMs are commonly diagnosed by age two, with symptoms varying based on lesion location and size. This paper reviews the classification of LMs and discusses the de Serres staging system, which aids in assessing prognosis based on lesion site. Mutations in the (PIK3CA) gene are implicated in most cases, and LMs are also associated with syndromic conditions like Turner and Noonan syndromes. They are diagnosed by ultrasound (USS) or magnetic resonance imaging (MRI), while a histologic analysis can confirm lymphatic origin. Treatment options range from conservative approaches, such as observation, to sclerotherapy, pharmacotherapy, and surgery. Sclerotherapy, particularly with agents like OK-432, bleomycin, and doxycycline, has shown significant efficacy in reducing LM size and symptoms with minimal side effects. Pharmacological therapies, such as sirolimus, that target the mTOR pathway are also increasingly being used, with a good effect on the burden of disease. While surgical excision remains a choice for symptomatic or large lesions, minimally invasive approaches are often preferred due to lower morbidity. Emerging techniques include gravity-dependent sclerotherapy, electrosclerotherapy, alpelisib, everolimus, and Wnt/β-catenin pathway stimulators (e.g., tankyrase inhibitors, porcupine inhibitors). Computational atomistic molecular dynamics (MD) and density functional tight binding (DFTB) techniques may offer an experimental approach to future therapeutic targets. This paper highlights a multidisciplinary approach to LM management, emphasising individualised treatment based on lesion characteristics and patient needs. Full article

Introduction: Cerebral arteriovenous malformations (CAVMs) are rare, with an estimated prevalence of 0.01%. Symptoms typically present in adults under 40, often beginning with hemorrhage in 61% of cases. The annual risk of hemorrhage is between 2–4%, with a mortality rate of 10%, and 50% of survivors may experience permanent neurological deficits. Embolization can induce changes in the angioarchitecture of the affected vessels. Our case uniquely demonstrates a morphological alteration in the carotid artery (CA) and its primary branches, associated with the presence of a CAVM. Detailed Case Presentation: A 52-year-old patient presented to the Emergency Department with weakness, shortness of breath, dizziness, nausea, and vomiting that began earlier that morning. Clinical and radiological evaluations suggested acute bleeding from a ruptured CAVM. The patient was admitted for digital subtraction angiography (DSA) and potential embolization. DSA confirmed the presence of a CAVM, supplied by the middle meningeal and occipital arteries, with distortion of the left CA angioarchitecture. Selective catheterization and embolization using Onyx 18 were successfully performed. After receiving supportive treatment, the patient was discharged in good condition. A follow-up CT scan three months later showed complete resolution of the brain pathologies. A repeat angiogram revealed no recanalization of the CAVM, with normalization of the CA and its branches. The patient is currently asymptomatic. Conclusions: Detection of pathological changes in the head and neck arteries linked to CAVM can predict rupture risk and complicate endovascular access. Identifying these changes early warrants consideration of interventions to prevent hemorrhage, though alternative access routes or strategies may be needed for safe, effective treatment. Full article

Background: Tracheostomy is an essential procedure in cases of respiratory failure in patients requiring long-term ventilation or showing airway obstruction. Tracheostomy has both immediate and long-term complications. Among these, tracheo-innominate fistula is an emergency that is a rare long-term complication. When it occurs, this event is catastrophic for the patient’s life, as it causes death in a very short time due to hemorrhagic shock. Therefore, it is essential to identify risk factors to prevent these cases. Methods: We describe the autopsy findings in a case of death from tracheo-innominate fistula of a patient admitted to the Intensive Care Unit. Results: The autopsy demonstrated, in addition to the large fistula, the coexistence of a malformation of the cervical spine with a significant increase in the diameter of the neck. Therefore, we emphasize in this case the importance of evaluating risk factors in subjects with tracheostomy by highlighting the role of anatomy and the size of the neck as potential predictable risks. Conclusions: The work retraces through a review the pathogenesis of this rare complication and emphasizes the need for early diagnosis and prevention of the risk of death with specific risk scales. Full article

Infantile haemangiomas (IHs) affect 3–10% of infants, 10% of whom need topical or systemic beta-blocker therapy. Propranolol is the first choice for IHs with a high risk of complications. Since more than half of IHs leave a permanent mark, to reduce outcomes, it is essential to start oral propranolol (2–3 mg/kg/day in 2 doses/day) within the 5th month of life (i.e., during the proliferative phase) and to complete the therapy cycle for at least 6 months. This review aims to summarise the epidemiology, clinical presentation, diagnosis, and treatment of IHs and to highlight the importance of proper referral to specialised hub centres. Patients with vascular anomalies, particularly those suspected of having IH, should be referred to a specialised centre for accurate diagnosis, management by a multidisciplinary team, and timely treatment. IHs may pose life-threatening, functional, and aesthetic risks or may ulcerate. Segmental infantile haemangioma of the face/neck and the lumbosacral regions can be associated with various malformations. To ensure timely specialist evaluation and treatment to reduce the potential risk of complications, it is essential to identify high-risk IHs rapidly. The Infantile Haemangioma Referral Score (IHReS) scale is an important tool to assist primary care paediatricians and general dermatologists. Full article

This retrospective study was aimed at characterizing vascular malformations (VMFs) presenting for minimally invasive image-guided therapies (MIT) at a tertiary-care center and evaluating treatment regimens and image-based outcomes using MRI. We analyzed demographic, disease-related, and radiologic features of VMFs presenting to interventional radiology between May 2008 and August 2020 using compendium vascular anomaly (Compva) criteria. MIT and specific agents were evaluated, and treatment effects were assessed through volumetry and mean signal intensity (MSI) on multiparametric longitudinal MRI. The statistics included the paired t-test, ANOVA, and Fisher’s exact test. The cohort included 217 patients (mean age 30 ± 18.4 years; 134 female). Venous malformations were most common (47%). VMFs were frequently located in the head-neck region (23.5%), legs (23.04%), and arms (13.8%). Among 112 treatments, sclerotherapy was performed most frequently (63.9%), followed by embolization (19.3%). MRI showed a significant reduction in T2 MSI for venous (1107.95 vs. 465.26; p = 0.028) and decreased contrast media uptake for lymphatic malformations (557.33 vs. 285.33; p = 0.029) after sclerotherapy, while the lesion volumes did not change significantly (p = 0.8). These findings propose MRI-derived MSI as a potential non-invasive biomarker for assessing the response of VMF to MIT. By leveraging MRI, this study addresses challenges in managing rare diseases like VMFs, while advocating for standardized approaches and prospective studies to better link imaging findings with clinical outcomes. Full article

Conjoined twins are rare congenital malformations that have been reported in mammals. Two different cases are presented in this study. Case No. 1 features monocephalic, thoracopagus-conjoined twin piglets with anencephaly and palatoschisis of the Pietrain breed, and case No. 2 features monocephalic, thoracopagus conjoined twin piglets with palatoschisis and bifid root tongue of a mixed breed. These cases were examined using post-mortem and computed tomography (CT) examinations. In both cases, the conjoined symmetrical twins had a single head, one neck, and fused thoracic cavities, while the abdominal cavities were separated. Similarly, in both cases, they had four forelimbs and four hindlimbs and duplicated foramen magnum. During CT examination, in case No. 1, severe abnormalities were observed in the skull and vertebral column. In the left twin, occult dysraphism was seen from the C2 vertebra until the end of the vertebral column, and in the right twin, from the C3 vertebra until the end of the state vertebral level. In case No. 2, the oral cavity contained a tongue with a bifid root connected with one hyoid bone, and the soft palate presented a small cleft. During CT examination, the parietal bone and the occipital bones were partially duplicated. This case also presented occult dysraphism, but only in the cervical vertebrae, C1–C6 for the left twin and C1–C5 for the right twin. In both cases, abnormalities of the internal organs were revealed during necropsy. Conjoined twins with multiple congenital anomalies presented here enhance our understanding of the various clinical forms of conjoined cases in veterinary medicine. Full article

Arteriovenous malformation (AVM) is an abnormal connection of vasculature resulting in capillary bed bypassing and leading to neurological deterioration and high risk of bleeding. Intramedullary AVMs in the cervical spinal cord are rare and require precise diagnostics and treatment. We present a clinical case of recurrent AVMs in a 28-year-old Caucasian female with sudden and severe neck pain and variable neurological symptoms along with current diagnostic and treatment modalities. Conservative treatment was partially effective. MRI and DSA confirmed AVMs at C4 level with subsequent several endovascular treatment sessions at the age of 15 and 24 with mild neurological improvement. Afterwards the patient underwent rehabilitation with minor neurological improvement. This case highlights the clinical progression and treatment of AVMs along with showcasing current pathophysiology, classification, and imaging. Full article

Congenital cervicofacial vascular anomalies are extremely rare and present many difficulties in diagnosis and treatment requiring a multidisciplinary approach. Firstly, there is little consensus on this subject among head and neck specialists. There are two main types of vascular anomalies: vascular tumors and vascular malformations. Vascular malformations are also divided into malformations with slow blood flow (veins, lymphatics, capillaries or combined) and malformations with a fast blood flow (arteriovenous malformations and fistula). Vascular tumors like hemangiomas are known for their spontaneous involution with aging, while vascular malformations grow in dimensions with age. It is very important to choose the correct differential diagnosis between cervicofacial hemangiomas and vascular malformations for proper therapy management. Anamnesis and clinical exams help in raising suspicions about the real nature of a cervico-vascular anomaly. Furthermore, imaging brings in-depth details of the anomaly, ranging from ultrasound and contrast CT to MRI scanning and minimally invasive angiography. Angiography with selective embolization is rarely a curative procedure for arteriovenous malformations, being more suitable as a preliminary step before attempted surgical removal. Surgery is clearly necessary when there are aesthetic and functional deficits. Slow-flow vascular malformations present a reduced morbidity, and in cases without involution, the surgical ablation is reserved for the cases with aesthetic dysfunctions or psychological trauma. Lymphatic malformations must undergo surgical ablation when they are associated with mass effects and compression of great vessels or aerial viscera. The prognosis after surgical removal is good, with a low rate of recurrence or morbidity. Fast-flow vascular malformations require a combined approach, with embolization and excision in the next 48 h for safety reasons. Removal may be followed by reconstructive surgery depending on the location and dimensions of the malformation, with a possible secondary recovery of the normal microscopic vessels. Some of the masses may hinder the normal airflow and swallowing. Pathology is the gold standard for confirming the clinical and imaging diagnosis. Full article