Vascular anomalies of the tympanic membrane

2006 ◽  
Vol 120 (9) ◽  
pp. 796-799
Author(s):  
L O Redaelli de Zinis ◽  
C Galtelli ◽  
M G Barezzani
Keyword(s):  
Tympanic Membrane ◽  
Rare Case ◽  
Vascular Malformations ◽  
Incidental Finding ◽  
Vascular Anomalies ◽  
Vascular Lesions

Benign vascular lesions include various forms whose classification has created some controversies in the literature. The observation of a rare case of vascular bulge of the eardrum in a 57-year-old man prompted us to analyse the essential features of these lesions. This was an incidental finding and the mass was removed by a transcanal approach. The patient is free of disease four years later. Vascular malformations can be differentiated from vascular tumours since they are present at birth, are generally stable, do not involute, and do not necessitate treatment unless symptoms occur.

Is There an Association Between Hemangioma and Syndromes With Dysmorphic Features?

PEDIATRICS ◽  
1991 ◽  
Vol 88 (6) ◽  
pp. 1257-1267
Author(s):  
A. Jay Burns ◽  
Lawrence C. Kaplan ◽  
John B. Mulliken
Keyword(s):  
Aortic Arch ◽  
Vascular Malformations ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Dysmorphic Features ◽  
Vascular Birthmarks ◽  
Neonatal Tumor ◽  
Nevus Flammeus ◽  
Genitourinary Defects

Most vascular birthmarks can be categorized, based on clinical and cellular criteria, as either (1) a hemangioma, or (2) a malformation, or (3) a macular stain. Macular stains are commonly seen in newborns, and they consist of faint vascular stains of the glabella, eyelids, and nuchal region called "nevus flammeus," "stork bite," "salmon patch," etc. Unfortunately, the term "hemangioma" is frequently applied to all three types of cutaneous vascular lesions. Usually, these disparate vascular anomalies are listed in association with various malformative syndromes and are generically labeled "hemangioma." This study attempts to define accurately the specific vascular anomalies seen in children born with syndromes with dysmorphic features. This review of five standard textbooks of genetics showed that the majority of vascular anomalies reported in syndromic newborns are not hemangiomas. Rather, they are macular stains, and the vast majority of these fade with time. Congenital telangiectasias and other vascular malformations (capillary, lymphatic, venous, arterial, and combinations thereof) also occur in association with dysmorphic syndromes. contrast, hemangioma, the most common neonatal tumor, is seen only incidentally with rare dysmorphic conditions. Specifically, hemangioma was found to occur only in association with midline (sternal, abdominal) clefting, right-sided aortic arch coarctation, and with a constellation of sacral and genitourinary defects.

scholarly journals Cutaneous Vascular Anomalies Associated With Neural Tube Defects: Nomenclature and Pathology Revisited

Neurosurgery ◽  
2011 ◽  
Vol 69 (1) ◽  
pp. 112-118 ◽  
Author(s):  
Todd Maugans ◽  
Rachel M Sheridan ◽  
Denise Adams ◽  
Anita Gupta
Keyword(s):  
International Society ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Vascular Malformations ◽  
Strong Association ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Dermal Sinus ◽  
Cutaneous Lesions ◽  
Glut 1

Abstract BACKGROUND: Lumbosacral cutaneous vascular anomalies associated with neural tube defects are frequently described in the literature as “hemangiomas.” The classification system for pediatric vascular anomalies developed by the International Society for the Study of Vascular Anomalies provides a framework to accurately diagnose these lesions. OBJECTIVE: To apply this classification to vascular cutaneous anomalies overlying myelodysplasias. METHODS: A retrospective analysis of patients with neural tube defects and lumbosacral cutaneous vascular lesions was performed. All eligible patients had detailed histopathologic analysis of skin and spinal cord/placode lesions. Clinical and radiologic features were analyzed. Conventional histology and GLUT-1 immunostaining were performed to differentiate infantile capillary hemangiomas from capillary vascular malformations. RESULTS: Ten cases with cutaneous lesions associated with neural tube defects were reviewed. Five lesions were diagnosed as infantile capillary hemangiomas based upon histology and positive GLUT-1 endothelial reactivity. These lesions had a strong association with dermal sinus tracts. No reoperations were required for residual intraspinal vascular lesions, and overlying cutaneous vascular anomalies involuted with time. The remaining 5 lesions were diagnosed as capillary malformations. These occurred with both open and closed neural tube defects, did not involute, and demonstrated enlargement and darkening due to vascular congestion. CONCLUSION: The International Society for the Study of Vascular Anomalies scheme should be used to describe the cutaneous vascular lesions associated with neural tube defects: infantile capillary hemangiomas and capillary malformations. We advocate that these lesions be described as “vascular anomalies” or “stains” pending accurate diagnosis by clinical, histological, and immunohistochemical evaluations.

scholarly journals Glut 1, S-100, and Nerve Bundle Study in Vascular Anomalies

2021 ◽  
Author(s):  
Ajay K. Khanna ◽  
Akhilesh Kumar ◽  
Soumya Khanna ◽  
Amrita Kar ◽  
Puneet Kumar ◽  
...  
Keyword(s):  
Vascular Malformation ◽  
Vascular Malformations ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Histological Evaluation ◽  
Vascular Tumors ◽  
Nerve Bundle ◽  
Glut 1 ◽  
S 100 ◽  
Hematoxylin And Eosin

Abstract Vascular anomalies grouped into vascular tumors (hemangioma) (HI) and vascular malformation (VM) are benign vascular lesions that are difficult to distinguish from one another clinically and often confused with each other at histopathology. This confusing terminology leads to improper diagnosis, illogical treatment, and misdirected research. This study aimed to study GLUT 1, S-100, and nerve bundle to differentiate hemangioma and vascular malformation. Thirty two cases of vascular lesions (26 vascular malformations and 6 hemangiomas) were taken into the study. For histological evaluation and immunohistochemistry (IHC), samples of vascular lesions were collected in formalin. All the hematoxylin and eosin-stained slides were evaluated under light microscope for histology and nerve bundles. Immunohistochemical staining was performed by streptavidin–biotin method for GLUT 1 and S-100. GLUT 1 was positive in all 6 cases of hemangiomas (100%) and only in 1 case of vascular malformation. Nerve bundle was present in 24 cases of vascular malformation (92.3%) out of 26 cases but not in any cases of hemangioma and S-100 was found positive in all vascular malformation cases (100%) but not in hemangioma. So GLUT 1 expression, S-100, and presence of nerve bundle in vascular lesions can help to differentiate hemangioma and vascular malformation.

scholarly journals Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies

2021 ◽  
Vol 9 ◽  
Author(s):  
Andrea Diociaiuti ◽  
Guglielmo Paolantonio ◽  
Mario Zama ◽  
Rita Alaggio ◽  
Claudia Carnevale ◽  
...  
Keyword(s):  
Vascular Malformation ◽  
Early Recognition ◽  
Vascular Malformations ◽  
Clinical Signs ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Vascular Tumors ◽  
Capillary Malformation ◽  
Wide Range ◽  
Vascular Birthmarks

Vascular birthmarks are common in neonates (prevalence: 20–30%) and mostly incidental findings sometimes with spontaneous regression (salmon patch and nevus simplex). Capillary malformations are found in about 1% and infantile hemangiomas are found in 4% of mature newborns. Vascular malformations are classified according to their most prominent vessel type. The term “capillary malformation” (port wine stain) includes a wide range of vascular lesions with different characteristics; they may be isolated or part of specific syndromic conditions. Part of the infantile hemangiomas and of the vascular malformations may require treatment for functional or cosmetic reasons, and in rare cases, investigations are also necessary as they represent a clue for the diagnosis of complex vascular malformation or tumors associated with extracutaneous abnormalities. Complex vascular malformations are mostly mosaicism due to early somatic mutations. Genetic advances have led to identify the main pathogenic pathways involved in this disease group. Diffuse capillary malformation with overgrowth, Klippel–Trenaunay syndrome, CLAPO syndrome, CLOVES syndrome, and megalencephaly-capillary malformation belong to the PIK3CA-related overgrowth. Capillary malformation–arteriovenous malformation underlies a fast-flow vascular malformation, sometimes manifesting as Parkes–Weber syndrome. Recognition of these different types of capillary vascular stains is sometimes difficult; however, associated findings may orient the clinicians while genetic testing may confirm the diagnosis. Lymphatic malformation frequently manifests as large masses that compress and/or infiltrate the surrounding tissues, representing a neonatal emergency when airways are involved. Infantile hemangiomas may cause functional and/or permanent esthetical damage, depending on their localization (such as periorbital area, lip, nose); large (more than 5 cm) infantile hemangiomas with a segmental distribution can be associated with obstruction or malformations of the underneath organs with complications: PHACE syndrome, LUMBAR/SACRAL syndrome, and beard infantile hemangioma. In our review, we discuss controversies regarding the international classification and emerging concepts in the field of vascular anomalies. Finally, we discuss potential developments of new, non-invasive diagnostic techniques and repurposing of target therapies from oncology. Complex and/or life-threatening vascular tumors and malformations are extremely rare events and they represent a considerable therapeutic challenge. Early recognition of clinical signs suggestive for a specific disease may improve therapeutic outcomes and avoid severe complications.

scholarly journals Cerebral Cavernous Malformations, Developmental Venous Anomaly, and Its Coexistence: A Review

2020 ◽  
Vol 83 (4) ◽  
pp. 360-368 ◽  
Author(s):  
Pretty Sara Idiculla ◽  
Dhineshreddy Gurala ◽  
Jobin Philipose ◽  
Kartikeya Rajdev ◽  
Prateek Patibandla
Keyword(s):  
English Language ◽  
Vascular Malformations ◽  
Incidental Finding ◽  
Neurological Deficits ◽  
Vascular Lesions ◽  
Cerebral Cavernous Malformations ◽  
Developmental Venous Anomaly ◽  
Venous Anomaly ◽  
Cavernous Malformations ◽  
Acute Thrombosis

Background: Cerebral cavernous malformations (CCMs) are intracranial vascular malformations that can exist as a single lesion or mixed vascular lesions. The most common mixed form is the coexistence of CCM with an associated developmental venous anomaly (DVA). In this paper, we aim to give a comprehensive review of CCM, DVA, and their coexistence as mixed lesions. A PubMed search using the keywords “Cerebral cavernous malformations, Developmental venous anomaly, Mixed Cerebral cavernous malformations with Developmental venous anomaly” was done. All studies in the English language in the past 10 years were analyzed descriptively for this review. Summary: The search yielded 1,249 results for “Cerebral cavernous malformations,” 271 results for “Developmental venous anomaly,” and 5 results for “Mixed Cerebral cavernous malformations with Developmental venous anomaly.” DVA is the most common intracranial vascular malformation, followed by CCM. CCM can have a wide array of clinical presentations like hemorrhage, seizures, or focal neurological deficits or can also be an incidental finding on brain imaging. DVAs are benign lesions by nature; however, venous infarction can occur in a few patients due to acute thrombosis. Mixed CCM with DVA has a higher risk of hemorrhage. CCMs are angiographically occult lesion, and cerebral digital subtraction angiography is the gold standard for the diagnosis of DVA. Mixed lesions, on the other hand, are best diagnosed with magnetic resonance imaging, which has also been effective in detecting specific abnormalities. Asymptomatic lesions are treated through a conservative approach, while clinically symptomatic lesions need surgical management. Conclusion: Individual CCM or DVA lesions have a benign course; however, when they coexist in the same individual, the hemorrhagic risk is increased, which prompts for rapid diagnosis and treatment.

Vascular and Perivascular Lesions of Skin and Soft Tissues in Children and Adolescents

2012 ◽  
Vol 15 (1_suppl) ◽  
pp. 26-61 ◽  
Author(s):  
Elisabeth Bruder ◽  
Rita Alaggio ◽  
Harry P. W. Kozakewich ◽  
Gernot Jundt ◽  
Louis P. Dehner ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Soft Tissues ◽  
Vascular Malformations ◽  
Classification Systems ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Malignant Neoplasms ◽  
Clinical Expertise ◽  
Full Spectrum ◽  
Specific Diagnosis

Vascular anomalies in children and adolescents are the most common soft tissue lesions and include reactive, malformative, and neoplastic tumefactions, with a full spectrum of benign, intermediate, and malignant neoplasms. These lesions are diagnostically challenging because of morphologic complexity and recent changes in classification systems, some of which are based on clinical features and others on pathologic findings. In recent decades, there have been significant advances in clinical diagnosis, development of new therapies, and a better understanding of the genetic aspects of vascular biology and syndromes that include unusual vascular proliferations. Most vascular lesions in children and adolescents are benign, although the intermediate locally aggressive and intermediate rarely metastasizing neoplasms are important to distinguish from benign and malignant mimics. Morphologic recognition of a vasoproliferative lesion is straightforward in most instances, and conventional morphology remains the cornerstone for a specific diagnosis. However, pathologic examination is enhanced by adjunctive techniques, especially immunohistochemistry to characterize the type of vessels involved. Multifocality may cause some uncertainty regarding the assignment of “benign” or “malignant.” However, increased interest in vascular anomalies, clinical expertise, and imaging technology have contributed greatly to our understanding of these disorders to the extent that in most vascular malformations and in many tumors, a diagnosis is made clinically and biopsy is not required for diagnosis. The importance of close collaboration between the clinical team and the pathologist cannot be overemphasized. For some lesions, a diagnosis is not possible from evaluation of histopathology alone, and in a subset of these, a specific diagnosis may not be possible even after all assembled data have been reviewed. In such instances, a consensus diagnosis in conjunction with clinical colleagues guides therapy. The purpose of this review is to delineate the clinicopathologic features of vascular lesions in children and adolescents with an emphasis on their unique aspects, use of diagnostic adjuncts, and differential diagnosis.

scholarly journals Upbeat vertical nystagmus after brain stem cavernoma resection: a rare case of nucleus intercalatus/nucleus of roller injury

2020 ◽  
Vol 267 (10) ◽  
pp. 2865-2870
Author(s):  
Torstein R. Meling ◽  
Aria Nouri ◽  
Adrien May ◽  
Nils Guinand ◽  
Maria Isabel Vargas ◽  
...  
Keyword(s):  
Rare Case ◽  
Vascular Malformations ◽  
Clinical Manifestations ◽  
Neurological Injury ◽  
Medial Longitudinal Fasciculus ◽  
Blurred Vision ◽  
Complete Excision ◽  
First Case ◽  
Vertical Nystagmus ◽  
Upbeat Nystagmus

Abstract Introduction CNS cavernomas are a type of raspberry-shaped vascular malformations that are typically asymptomatic, but can result in haemorrhage, neurological injury, and seizures. Here, we present a rare case of a brainstem cavernoma that was surgically resected whereafter an upbeat nystagmus presented postoperatively. Case report A 42-year old man presented with sudden-onset nausea, vomiting, vertigo, blurred vision, marked imbalance and difficulty swallowing. Neurological evaluation showed bilateral ataxia, generalized hyperreflexia with left-sided predominance, predominantly horizontal gaze evoked nystagmus on right and left gaze, slight left labial asymmetry, uvula deviation to the right, and tongue deviation to the left. MRI demonstrated a 13-mm cavernoma with haemorrhage and oedema in the medulla oblongata. Surgery was performed via a minimal-invasive, midline approach. Complete excision was confirmed on postoperative MRI. The patient recovered well and became almost neurologically intact. However, he complained of mainly vertical oscillopsia. The videonystagmography revealed a new-onset spontaneous upbeat nystagmus in all gaze directions, not suppressed by fixation. An injury of the rarely described intercalatus nucleus/nucleus of Roller is thought to be the cause. Conclusion Upbeat nystagmus can be related to several lesions of the brainstem, including the medial longitudinal fasciculus, the pons, and the dorsal medulla. To our knowledge, this is the first case of an iatrogenic lesion of the nucleus intercalatus/nucleus of Roller resulting in an upbeat vertical nystagmus. For neurologists, it is important to be aware of the function of this nucleus for assessment of clinical manifestations due to lesions within this region.

scholarly journals CT angiography and MRI of hand vascular lesions: technical considerations and spectrum of imaging findings

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Alain G. Blum ◽  
Romain Gillet ◽  
Lionel Athlani ◽  
Alexandre Prestat ◽  
Stéphane Zuily ◽  
...  
Keyword(s):  
Doppler Ultrasonography ◽  
Spindle Cell ◽  
State Of The Art ◽  
Vascular Malformations ◽  
Vascular Lesions ◽  
Systemic Diseases ◽  
Contrast Enhanced ◽  
Vascular Compromise ◽  
Exposure To Trauma ◽  
Technical Considerations

AbstractVascular lesions of the hand are common and are distinct from vascular lesions elsewhere because of the terminal vascular network in this region, the frequent hand exposure to trauma and microtrauma, and the superficial location of the lesions. Vascular lesions in the hand may be secondary to local pathology, a proximal source of emboli, or systemic diseases with vascular compromise. In most cases, ischaemic conditions are investigated with Doppler ultrasonography. However, computed tomography angiography (CTA) or dynamic contrast-enhanced magnetic resonance angiography (MRA) is often necessary for treatment planning. MR imaging is frequently performed with MRA to distinguish between vascular malformations, vascular tumours, and perivascular tumours. Some vascular tumours preferentially affect the hand, such as pyogenic granulomas or spindle cell haemangiomas associated with Maffucci syndrome. Glomus tumours are the most frequent perivascular tumours of the hand. The purpose of this article is to describe the state-of-the-art acquisition protocols and illustrate the different patterns of vascular lesions and perivascular tumours of the hand.

scholarly journals Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion

2021 ◽  
pp. 195-201
Author(s):  
Emily Sideris ◽  
Er Tsing Vivian Tng ◽  
Paul Chee
Keyword(s):  
Current Literature ◽  
Kras Mutation ◽  
Rare Case ◽  
Mtor Inhibitor ◽  
Vascular Malformations ◽  
Lymphatic Malformation ◽  
Literature Discussion ◽  
Lymphatic Malformations ◽  
Epidermal Nevus ◽  
Overgrowth Syndromes

We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.

A Rare Case: Primary Venous Malformation in Parietal Bone

2021 ◽  
pp. 1-4
Author(s):  
Serhat Yarar ◽  
Ilker Uyar ◽  
Mehmet Emin Cem Yildirim ◽  
Mehmet Dadacı ◽  
Bilsev Ince
Keyword(s):  
Vascular Malformation ◽  
Rare Case ◽  
Histopathological Examination ◽  
Vascular Malformations ◽  
Venous Malformation ◽  
Parietal Bone ◽  
Hair Density ◽  
Trichilemmal Cyst ◽  
Advancement Flaps ◽  
Rotation Advancement

Primary intraosseous vascular malformations (PIVMs) are rare intraosseous lesions, accounting for approximately 0.5–1% of all intraosseous tumours. In this case report, we aimed to present a rare case of intraosseous vascular malformation causing a large lytic area in the parietal bone. A 25-year-old male patient was admitted to the clinic with a mass on the parietal bone. On physical examination, it was observed that the hair density on the mass was decreased, the mass had a soft consistency, and there was no pain on palpation. The patient was operated under local anaesthesia with a provisional diagnosis of a trichilemmal cyst. However, intraoperative diagnosis was a vascular malformation. There was a 3-cm full-thickness defect on the parietal bone caused by the lesion. The mass was excised completely while preserving the integrity of the dura. The resulting defect was reconstructed with bilateral rotation advancement flaps. The calvarial defect was not reconstructed due to equipment inadequacy. No complications were encountered in the postoperative period. Ninety-three PIVM cases have been reported in the skull since 1845. In very few of these cases, the mass is located in the parietal bone. The pathogenesis of PIVMs is not completely understood. The definitive diagnosis is made by histopathological examination. The therapeutic gold standard is surgery. Surgeons should keep in mind that radiological examination before the operation could prevent undesirable complications.

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