Intraosseous Vascular Malformation Research Articles

Surgical Navigation and CAD-CAM-Designed PEEK Prosthesis for the Surgical Treatment of Facial Intraosseous Vascular Anomalies.

Background: Intraosseous vascular anomalies in the facial skeleton present significant diagnostic and therapeutic challenges due to complex anatomy. These anomalies represent about 0.5-1% of bony neoplastic and tumor-like lesions, usually presenting as a firm, painless mass. Most described intraosseous vascular malformations are venous malformations (VMs) and, more rarely, arteriovenous malformations. Objectives: The objectives of this work are to show our experience, protocol and the applications of computer planning, virtual surgery, CAD-CAM design, surgical navigation, and computer-assisted navigated piezoelectric surgery in the treatment of facial intraosseous vascular anomalies and to evaluate the advantages and disadvantages. Methods: Three females and one male with periorbital intraosseous vascular anomalies were treated using en-block resection and immediate reconstruction with a custom-made PEEK prosthesis. One lesion was in the supraorbital rim and orbital roof, one in the frontal bone and orbital roof, and two in the zygomatic region. We accomplished the resection and reconstruction of the lesion using virtual planning, CAD-CAM design, surgical navigation and piezoelectric device navigation. Results: There were no complications related to the surgery assisted with navigation. With an accuracy of less than 1 mm, the procedure may be carried out in accordance with the surgical plan. The surgeon's degree of uncertainty during deep osteotomies and in locations with low visibility was decreased by the use of the navigated piezoelectric device. Conclusions: Resection and reconstruction of facial intraosseous vascular anomalies benefit from this new surgical strategy using CAD-CAM technologies, computer-assisted navigated piezoelectric surgery, and surgical navigation.

Intraosseous vascular malformation of the skull: a case report and literature review.

A 59-year-old woman presented to our clinic with a 3.5× 3-cm protruding mass on her forehead. A skull X-ray revealed a radiolucent osteolytic lesion on the left side of the frontal bone. Additionally, computed tomography showed a 3.1× 1.7× 3.6-cm mass exhibiting a "sunburst" pattern situated between the outer and inner tables of the skull, just superior and lateral to the left frontal sinus. This pattern suggested the presence of an intraosseous vascular malformation (IVM). The lesion was approached via a bicoronal incision. En-bloc resection was performed, removing the mass along with approximately 0.5 cm of the surrounding normal bone without injury to the exposed frontal sinus mucosa. The exposed mucosa was reinforced with a galeal flap, and cranioplasty with bone cement was performed to repair the resulting bony defect. Pathological examination confirmed a diagnosis of intraosseous cavernous-type malformation with mixed cavernous and capillary histological features. We report this case of IVM and review the existing literature, highlighting the satisfactory functional and aesthetic outcomes after surgery.

CLINICAL PATHOLOGIC CONFERENCE CASE 1: A MULTILOCULAR RADIOLUCENCY OF THE RIGHT MANDIBLE

CLINICAL PATHOLOGIC CONFERENCE CASE 1: A MULTILOCULAR RADIOLUCENCY OF THE RIGHT MANDIBLE

Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.

Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations. This has led us to better understand the pathogenesis of vascular lesions, refine their diagnosis and update their classification while also exploring the opportunity for a targeted molecular treatment. This paper aims to provide an overview of venous malformations (VM) in childhood. Specific entities include common VMs, cutaneo-mucosal VM, blue rubber bleb nevus syndrome or Bean syndrome, glomuvenous malformation, cerebral cavernous malformation, familial intraosseous vascular malformation and verrucous venous malformation. The clinicopathological features and the molecular basis of each entity are reviewed.

Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease.

OBJECTIVE. The purpose of this study was to investigate whether MRI-typical and MRI-atypical intraosseous vascular malformations are associated with familial cerebral cavernous malformation (FCCM). MATERIALS AND METHODS. In a retrospective matched case-control study, two radiologists reviewed the spinal imaging, both CT and MRI, of 22 patients with FCCM seen between 2006 and 2017 and of age- and sex-matched control subjects for MRI-typical and MRI-atypical intraosseous vascular malformations. Quantitative analysis of lesions identified included vertebral level, size, and number of lesions. Pathologic samples from two lesions were analyzed for histologic and immunohistochemical features. Whether the presence of typical, atypical, and total intraosseous vascular malformations differed between patients and control subjects was tested. For patients with complete spinal imaging, whether intraosseous vascular malformations were associated with age, sex, brain lesion count, and spinal lesion count was also tested. RESULTS. MRI-atypical intraosseous vertebral malformations were more commonly present in patients with FCCM (p = 0.003). Sixteen lesions were found in nine patients and none in the control group. The numbers of MRI-typical intraosseous vascular malformations were similar between patients and control subjects (p = 0.480). Age was associated with typical intraosseous vascular malformations (p = 0.027), though not with atypical malformations. MRI-atypical malformations were larger (mean diameter double) than MRI-typical malformations (p = 0.023). Histologic analysis of two lesions from different patients with pathologic collapse revealed the same histologic features consistent with combined capillary-venous malformations. CONCLUSION. Vertebral capillary-venous malformations (MRI-atypical intraosseous vascular malformations) are common in patients with FCCM and may have a more aggressive clinical course than MRI-typical malformations.

SEQUENTIAL CHANGES POST-SCLEROTHERAPY OF A LARGE MANDIBULAR INTRAOSSEOUS HEMANGIOMA

<h3>Background</h3> Intraosseous hemangiomas of the jaws are rare entities, for which the origin is still being debated. Some believe them to be hamartomatous lesions derived from mesodermal cells that undergo endothelial differentiation, while others believe they are true neoplasms. Clinical features reported are swelling, facial asymmetry, mobile teeth, and audible bruits. Patients may report pain, paresthesia, or a sensation of pulsation. The majority of the reported cases in the literature have been treated with en block resection. In this case presentation sclerotherapy was implemented as the primary treatment for a large, albeit low-flow, lesion, in part because of the patient's objection to extensive surgery. <h3>Discussion/Conclusions</h3> A 59-year-old female was referred to our clinic for treatment of a histopathologically confirmed intraosseous vascular malformation diagnosed 5 years earlier. She presented with mild swelling of the left mandible, pain on chewing, and paresthesia in that region. A pantomograph revealed a large, partially loculated, radiolucent area in the left mandible; the lesion had approximately doubled in size since her initial visit. Multidetector computed tomography (MDCT) revealed an expansile lesion with effacement of the buccal cortex. Root resorption of multiple associated teeth was present. Spiral computed tomography (CT) angiography demonstrated an expansile, hypervascular soft tissue mass with no evidence of arteriovenous malformation, consistent with focal hemangioma. In this case, the goal was to resolve or at least greatly reduce the size of the lesion; thus, if surgical intervention was deemed necessary, it would be more conservative. Sequential sclerotherapy was performed and resulted in the return of nonvascular stroma, although with delayed significant reossification. It appears the patient's resistance to surgery was rewarded and likely resulted in a more aesthetic outcome. Because of the risk for recurrence, periodic long-term follow-up is scheduled.

Clinical and Molecular Study of ELMO-2–Related Massive Intraosseous Vascular Malformations

Massive intraosseous vascular malformations, a relatively rare entity in the vascular malformation spectrum, deserves attention as involving the membranous bones of the craniofacial skeleton and may lead to severe life-threatening hemorrhages and even death. The main aim of this study was to summarize the 25 years of clinical experience with these vascular malformation osseous patients, focus on the molecular and genetic aspect of the clinical entity, and to emphasize the certain challenging conditions in the treatment of these patients. All the patients appeared to be unaffected at birth, whereas initial symptoms occasionally began with painless swelling in the mandible in early childhood. The disease was progressive in behavior especially in the pubertal ages and was specifically involving the maxilla and mandible of the craniofacial skeleton in all the patients. Calvarium and cranial base were the second most common involved regions among these patients (62.5%). Clavicular (50%), costal (25%), and vertebral (25%) involvements were also a significant manifestation of the disease. Tissue samples obtained from the affected individuals and the blood samples from their families were matched, revealing a loss of function mutation in the ELMO-2 gene of chromosome 20 leading to developmental abnormality of the vascular structures via RAC1 signaling and leading to abnormally enlarged vessels in the intraosseus portion of the membranous bone. Immunohistochemical staining revealed positive CD31 and smooth muscle actin staining but negative proliferation and maturity markers such as Ki-67, desmin, h-caldesmon, and myofibroblast-like desmin. The follow-up of 3 of 5 patients ended up with mortality (60%). vascular malformation osseous is intraosseous vascular malformation with aggressive biological behavior associated with ELMO-2 gene mutation. Further studies for obtaining prenatal diagnosis and achievement of gene therapy should take place. As the disease rapidly progresses as the affected individual grows, surgical interventions should be taken into consideration before the initiation of complications.

Subdural hematoma in an infant with alpha-1-antitrypsin deficiency and a rare primary intra-osseous vascular malformation

Abstract We present a unique case of a four-week-old boy who died of a severe hypoxic encephalopathy due to a subdural hematoma. A week before his demise, a small left sided parieto-occipital subdural hemorrhage was seen on both CT and MRI. On the right side a larger, fronto-parietal subdural hemorrhage was present with a prominently defined protuberance to the right hemisphere, causing a midline shift to the left. Subdural hematomas have a broad differential diagnosis, including abusive head trauma which can have far reaching consequences. In order to diagnose the underlying cause of the subdural hematoma, and subsequently confirm or refute the differential diagnosis, a medicolegal autopsy was ordered. The autopsy revealed a rare primary intraosseous vascular malformation of the skull, at the location of the subdural hematoma. This, in combination with the coagulation disorder due to alpha-1-antitrypsin deficiency, was considered to be the underlying cause of death.

Intraosseous venous malformation of the zygomatico-orbital complex. Case report and literature review with focus on confusions in vascular lesion terms

Intraosseous vascular malformations (VascM) of the facial skeleton are rare entities, raising difficulties even today in their treatment. We present a case for zygomatic intraosseous venous malformation of traumatic etiology with growth dynamics presentation and a multidisciplinary treatment approach, with intravascular embolization surgical ablation and primary reconstructruction using a titanium patient-specific implant (PSI), and a review of the literature for intraosseous vascular lesions of the facial skeleton focusing on the diagnostic syntagms used by the involved medical personnel, to shed light on the confusions over these terms.

Intraosseous focal venous malformation of the mandibular body: Cone beam computed tomography planning followed by piezoelectric knife resection and free bone graft reconstruction

Introduction. Intraosseous vascular malformation could be life-threatening due to uncontrolled hemorrhage after tooth extraction. According to biological behavior of this lesion, adequate diagnostic and treatment strategies are necessary in order to avoid possible complications. We reported cone beam computed tomography (CBCT) planning of an urgent en bloc resection of an intraosseous venous malformation by piezoelectric knife. Case report. A 55-year-old man was submitted to CBCT planning followed by piezoelectric knife resection of an intraosseous focal venous malformation of the mandibular body. Immediate reconstruction of the defect using iliac bone free graft was performed. The surgical treatment was uneventful and a 2-year follow-up revealed no signs of recurrence. Conclusion. Piezoelectric knife could provide precise, safe and bloodless procedure which is especially important in this pathology. Advantages of this technique are: lower risk of damaging soft tissue structures, precise osteotomy and bloodless surgery. Moreover, using piezosurgery bone knife, blood transfusion and blood transmitted diseases could be avoided. This case highlights the importance of CBCT as planning tool for resection of the mandible, using piezoelectric knife as safe method to achieve bloodless surgery.

Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling

Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized lesions of arteriovenous, capillary, or lymphatic origin. Vascular malformations that occur inside bone tissue are rare. Herein, we report loss-of-function mutations in ELMO2 (which translates extracellular signals into cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (VMOS) in five different families. Individuals with VMOS suffer from life-threatening progressive expansion of the jaw, craniofacial, and other intramembranous bones caused by malformed blood vessels that lack a mature vascular smooth muscle layer. Analysis of primary fibroblasts from an affected individual showed that absence of ELMO2 correlated with a significant downregulation of binding partner DOCK1, resulting in deficient RAC1-dependent cell migration. Unexpectedly, elmo2-knockout zebrafish appeared phenotypically normal, suggesting that there might be human-specific ELMO2 requirements in bone vasculature homeostasis or genetic compensation by related genes. Comparative phylogenetic analysis indicated that elmo2 originated upon the appearance of intramembranous bones and the jaw in ancestral vertebrates, implying that elmo2 might have been involved in the evolution of these novel traits. The present findings highlight the necessity of ELMO2 for maintaining vascular integrity, specifically in intramembranous bones.

Abstract of papers for full membership at the Belgian Society of Radiology Conebeam-CT and fluoroscopy guided percutaneous absolute alcohol sclerotherapy of aneurysmal bone cyst – A single centre experience

Purpose: Aneurysmal bone cysts are benign bone lesions representing approximately 1% of all bone tumors. Lesions usually manifest in the first or second decade of life and are most frequently eccentrically located in the metaphysis of long tubular bones or in the axial skeleton. Etiologically lesions are considered as benign intra-osseous vascular malformations but can become locally aggressive, with significant extraosseous expansion. Conventional treatment protocols consisted of surgical curettage, with or without associated bone grafting. In some cases, the localization and extent of the cyst are such that operative treatment is extremely hazardous. Moreover surgical curettage is associated with high recurrence rates varying from 10 to 44%. We present a less invasive treatment option with fluoroscopy and conebeam-CT guided direct percutaneous sclerotherapy with intralesional absolute alcohol injections.

An unusual case of intraosseous vascular malformation of the maxilla mimicking fibrous dysplasia: a case report and literature review on imaging features of intraosseous vascular anomalies of the jaw.

Intraosseous vascular malformation (IVM) is a relatively rare pathological condition that may pose significant risks, such as excessive bleeding, during surgical procedures. We present a case of an 18-year-old female patient with firm swelling in the left maxilla. A bony expansion over the left half of the maxilla with preservation of the outer cortex and a ground glass appearance on CT images initially revealed a possibility of fibrous dysplasia. However, a tentative diagnosis of IVM was made based on the vascular nature of the lesion as well as the patient's surgical history and additional imaging findings. IVM should be included in the differential diagnosis of an expansile bony lesion with trabecular alteration. Through the literature review, it was found that imaging findings, such as a neurovascular canal widening on CT images and a hyperintense signal on T1 weighted MR images, might be helpful in differentiating IVM from other pathologies.

Surgical Treatment of Vascular Malformations of the Facial Bones

To characterize intraosseous vascular malformations and describe the most appropriate approach for treatment according to clinical experience and a review of the published data. We performed a retrospective review of 11 vascular malformations (7 venous and 4 arteriovenous) of the facial bones treated during a 10-year period using en bloc resection or intraoral aggressive curettage alone or preceded by endovascular embolization. Corrective surgery was planned to address any residual bone deformities. The cases were reviewed at a mean follow-up point of 6 years. Facial symmetry was restored in the cases requiring reconstruction. Tooth sparing was possible in the case of jaw and/or maxillary localization. Recanalization occurred in 14% of the venous and 33% of the arteriovenous malformations. Facial intraosseous venous malformations can be successfully treated using surgery alone. Facial intraosseous arteriovenous malformations will be better addressed using combined approaches. Aggressive curettage will obviate the need for extensive surgical resection in selected cases.

Diverse imaging characteristics of a mandibular intraosseous vascular lesion

Intraosseous vascular lesions of the maxillofacial region are rare, and the differential diagnosis of intraosseous vascular malformations from other jaw lesions can be challenging. In the present case, magnetic resonance imaging and three-dimensional computed tomographic angiography (CTA) was used for diagnosis, and the lesion was treated wih surgical excision. Diverse characteristics such as the "honeycomb" and "sunburst" radiographic appearances and the absence of major peripheral feeder vessels in the CTA were noted. Intraosseous vascular malformations have a varied radiographic appearance, and the nomenclature of these lesions is equally diverse, with several overlapping terms. Pathologists do not generally differentiate among intraosseous vascular lesions on the basis of histopathology, although these lesions may present with contrasting immunohistochemical and clinical behaviors requiring varied treatment strategies. This case report highlights the need for multiple imaging modalities to differentiate among vascular lesions, as well as to better understand the behaviors of these unique lesions.

Solitary Osseous Capillary-type Vascular Malformation of the Distal Humerus in a Child

Vascular malformations are abnormal proliferations of the endothelial lining of the blood vessels that are most commonly found in skin and can penetrate the local soft tissue and muscle. Only 1% of all vascular malformations are found in the bone. Skeletal vascular malformations of the long bones, including the humerus, are extremely rare entities that are particularly uncommon in children. Only 4 reports involving the humerus have been described in children previously. We present the case of an intraosseous capillary vascular malformation of the right distal humerus in a 3-year-old boy. Definitive treatment was successful with a single operation using curettage and intramedullary decompression with grafting of an osteoconductive calcium sulfate pellet filler and autogenous bone graft. This is, to our knowledge, the youngest reported case of a solitary intraosseous capillary vascular malformation involving the distal humerus.

Intraosseous vascular malformation of the mandibular condyle: presentation of a case and differential diagnosis

Vascular malformations are benign tumors that are characterized by the presence of blood vessels lined by cells with a normal cell turnover. They constitute less than 1 % of all osseous tumors. A central location within the jaws is rare, but the body of the mandible is most often affected. Reports of intraosseous vascular malformations of the mandibular condyle are extremely rare; only eight previous cases have been reported. The purpose of this study is to present a case of a vascular malformation of the condyle with diagnostic images and to discuss the differential diagnosis.

Chronic middle foot pain in a patient with a swollen leg: diagnosis and discussion

Klippel-Trenaunay-Weber or simply Klippel-Trenaunay syndrome (KTS) also known as osteoangiohypertrophy syndrome or nevus vasculosus hypertrophicus is a rare congenital non-inheritable venous disorder of unknown origin. A classical symptom triad of port-wine stain, varicosis, and limb hypertrophy was first described by the two French physicians Maurice Klippel and Paul Trenaunay in 1900 [1]. The etiology of KTS is still not determined. Klippel and Trenaunay speculated that a spinal cord abnormality might be the cause of observed symptoms. Other authors believe that atresia of the deep leg veins or developmental mesodermal defect could be the underlying cause [2]. Current findings suggest that KTS is a result of mutation of an angiogenic factor gene [3]. Diagnosis is usually based on the presence of at least two classic symptoms at birth or in early childhood. Cutaneous manifestations are red to purplish in color and can be found on any part of the body in 98% of patients [4]. They are vascular malformation–ectatic, thin-walled capillaries in the dermis. Varicosis is found in 72% of the KTS-affected population [4]. The deep venous system of an affected limb might also be involved. Of high importance are visceral vascular malformations as they can cause severe hemorrhages. Lymphatic system involvement in the form of malformations is reported in 11% of patients [4]. Jacob et al. found that 67% of KTS patients present with a limb hypertrophy limited to one leg but more limbs and head or trunk might also be involved [4]. In an overwhelming majority of cases, girth and/or length of involved extremity is increased, but decrease of length and width have also been reported [5]. The limb enlargement develops because of soft tissue hypertrophy with or without bone hypertrophy. Associated findings include macrodactyly, syndactyly, and polydactyly [6]. Affected bones are elongated and show cortical thickening. An imaging feature of advanced stages is osteoporotic-like changes owing to intraosseous vascular malformations as seen in our patient [7]. In many patients there is no treatment needed, although compression stockings are recommended for all of them [8]. Skin care is advised to avoid cellulitis. In mature patients with leg length difference of more then 2 cm, surgical shortening of the affected limb might be considered. Superficial as well as deep vascular malformations might be treated by laser therapy, excision, cryotherapy, sclerosis, and ligation. In the presented patient, osteoangiohypertrophy syndrome of left leg has been diagnosed in childhood. Because of chronic foot pain, a radiograph was performed that showed phleboliths, osteopenia of the first to third metatarsal and The case presentation can be found at doi:10.1007/s00256-011-1237-9.

Maxillary intraosseous vascular malformation: a case report and literature review

We present a rare case of maxillary intraosseous vascular malformation and review the nomenclature used by pathologists and clinicians in classifying vascular anomalies. We also discuss the literature and highlight potential management pitfalls.

Evaluation and Management of Pain in Patients with Klippel-Trenaunay Syndrome: A Review

Klippel-Trenaunay syndrome (KTS) is a rare disorder that consists of a triad of capillary vascular malformation, venous malformations and/or varicose veins, and soft tissue and/or bony hypertrophy. Pain is a real and debilitating problem in these patients. We have observed 9 common causes of pain in KTS: (1) chronic venous insufficiency, (2) cellulitis, (3) superficial thrombophlebitis, (4) deep vein thrombosis, (5) calcification of vascular malformations, (6) growing pains, (7) intraosseous vascular malformation, (8) arthritis, and (9) neuropathic pain. The management of pain in patients with KTS depends on its cause. These patients are best evaluated initially in a center with an experienced multidisciplinary team that includes a primary health care provider, surgeons, and ancillary staff. The ongoing care of a patient with KTS often depends on a local provider who is more readily accessible to the patient but may not have the expertise of a large center to manage the complications of KTS. The purpose of this communication is to review the common causes of pain in these patients to provide local health care providers and patients and their families with appropriate management strategies.