Isolated cavernous venous malformation of the eyelid.

Cavernous hemangioma, currently known as "cavernous venous malformation," is a common, benign, non-infiltrative, slowly progressive vascular malformation of the orbit presenting in adults. We report the case of a 9-year-old girl who presented with a painless palpable mass over the right upper eyelid of 7 years' duration. A computed tomography scan of the orbits revealed a heterogeneously enhancing, well-circumscribed mass in the right upper eyelid with no orbital extension. A transcutaneous excisional biopsy with histopathology disclosed cavernous venous malformation. The majority of cavernous venous malformations are intraconal and present in the fourth to fifth decade of life.

Biological identity of orbital cavernous venous malformations.

Vascular anomalies comprise a wide spectrum of clinical manifestations related to disturbances in the blood or lymph vessels. They correspond to mainly tumors (especially hemangiomas), characterized by high mitotic activity and proliferation of the vascular endothelium, and malformations, endowed with normal mitotic activity and no hypercellularity or changes in the rate of cell turnover. However, the classifications of these lesions go beyond this dichotomy and consist various systems adapted for and by different clinical subgroups. Thus, the classifications have not reached a consensus and have historically caused confusion regarding the nomenclatures and definitions. Cavernous venous malformations of the orbit, previously called cavernous hemangiomas, are the most common benign vascular orbital lesions in adults. Herein, we have compiled and discussed the various evidences, including clinical, radiological, morphological, and molecular evidence that indicate the non-neoplastic nature of these lesions.

Inflammatory myofibroblastoma mimicking cavernous hemangioma in the liver.

A 37-year-old female patient was admitted to the hospital with a large liver mass, diagnosed as hepatic inflammatory myofibroblastic tumour (HIMT), characterized by unique radiographic features and predominantly occurring in adults. HIMT consists of myofibroblast spindle cells infiltrated by plasma cells and/or lymphocytes, with an unclear aetiology linked to factors like infection and immune response. Treatment typically involves surgical resection, with chemotherapy or targeted therapy options for cases of incomplete resection or metastasis, emphasizing the need for precise diagnosis and tailored treatment strategies.

Optochiasmatic Cavernomas: Updated systematic review and proposal of a novel classification with surgical approaches.

Cavernomas are histologically benign vascular malformations found at different sites in the brain. A rare site for such cavernomas, however, is the anterior optic pathway, comprising the optic nerve, chiasma, and optic tract-called optochiasmatic cavernomas (OCC). These lesions usually present with sudden onset or progressive vision loss, headache, and features mimicking pituitary apoplexy. In this paper, we describe a case of OCC operated at our center. We carry out an updated review of literature depicting cases of OCC, their clinical presentation, management, and postoperative complications. We also propose a novel classification system based on lesion location and further analyze these cavernoma types with respect to the surgical approach used and visual outcome. A 30-year-old lady had presented with a 3-week history of progressive bilateral vision loss and headache. Based on imaging, she was suspected to have a cavernous angioma of the chiasma and left optic tract. Due to progressive vision deterioration, the lesion was surgically excised using pterional craniotomy. Postoperatively, her visual symptoms improved, but she developed diabetes insipidus. Clinical and radiological follow-up has been done for 18 months after surgery. A total of 81 cases have been described in the literature, including the present case. Chiasmal apoplexy is the most common presentation. Surgical excision is the standard of care. Our analysis based on lesion location shows the most appropriate surgical approach to be used for each cavernoma type. Visual outcome correlates with the preoperative visual status. Visual outcome is good in patients presenting with acute chiasmal apoplexy, and when complete surgical excision is performed. The endonasal endoscopic approach was found to provide the best visual outcome. In addition to preoperative visual status, complete surgical excision predicts favorable visual outcomes in OCC. Our proposed classification system guides the appropriate surgical approach required for a particular location of the cavernoma.

A rare case report of cervical hemangioma and a comprehensive literature review of 137 cases of cervical and uterine hemangiomas.

The cervix of the uterus is a rare site for cavernous hemangiomas. Cervical hemangiomas are slow-growing tumors with characteristic histological findings, including dilated vessels with increased endothelial cells. Although their pathophysiology remains unclear, hormones are believed to play an important role in the development of these vascular tumors. They may be asymptomatic due to their small size, but they can cause gynecological and obstetrical complications, including abnormal uterine bleeding and impaired fertility. Due to their small size, conservative treatment is the first line of management. Hysterectomy is considered for refractory cases or for patients who are not of childbearing age. In this study, firstly, we presented a case of a 60-year-old postmenopausal female without any gynecological-related signs or symptoms with a polypoid nodule hanging over the anterior cervical wall through its stalk. The surgical biopsy revealed no signs of neoplastic changes, with the only notable finding being a benign vascular lesion representing a cavernous hemangiomatous cervical polyp. The patient underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy and she is currently healthy without any further abnormal findings. Additionally, we provided a comprehensive review of 137 cases in the literature since 1883, detailing their characteristics, signs and symptoms, and pathology.

Female Urethral Cavernous Hemangioma: Introducing Treatment and Follow-Up Course of Three Cases.

Cavernous hemangioma is a benign vascular tumor occurring in all parts of the urinary system, including the kidney, bladder, prostate, ureter, and rarely urethra. Urethral cavernous hemangiomas are mostly seen in male patients, and only a few cases of female urethral hemangiomas are reported. Herein, we present the management and follow-up course of 3 cases of female urethral cavernous hemangioma. All 3 cases were menopause women complaining of lower urinary tract symptoms. Definitive diagnosis is made by histopathologic evaluation. In case of large or pedunculated masses, initial surgical resection is highly recommended. Regular follow-up of patients in order to prevent any recurrence is suggested.

Giant Sclerosing Hepatic Hemangioma Presenting as Bornman-Terblanche-Blumgart Syndrome: a Case Report and Review of the Literature.

Background: Hepatic hemangioma represents the most frequent benign tumor originating from the liver. When the tumor exceeds 10 cm, and in some studies 4 or 5 cm, it is considered giant, which accounts for 10% of all hemangiomas arising from the liver. Histologically, Sclerosing hepatic hemangioma, in particular, is an exceedingly rare subtype of hemangioma. Clinically Bornman-Terblanche-Blumgart syndrome is a very rare complication of hepatic hemangioma. Objective: The aim of this case presentation was to contribute to the literature by documenting a case of giant sclerosing hemangioma diagnosed in a 36-year-old female presenting with Bornman-Terblanche-Blumgart syndrome, along with a brief review of the literature. Case report: The current paper documents two rare clinical and histological features of hepatic hemangioma. Bornman-Terblanche-Blumgart syndrome is complicated a giant hepatic hemangioma found histologically to be sclerosing in nature. Knowledge about the uncommon complications of liver hemangioma permits the implementation of appropriate interventions in a timely manner and, in turn, can enhance the patient's quality of life and minimize rates of associated mortality.

Hepatic Cavernous Hemangioma Mimicking Malignancy on 18 F-FDG PET/CT Imaging.

ABSTRACT: A 65-year-old woman was referred to our hospital because of a liver lesion revealed by ultrasound and CT in an outside institution. 18 F-FDG PET/CT images revealed an FDG-avid lesion in the left lateral lobe of the liver. Malignancy cannot be excluded. A subsequent resection was performed to remove the lesion. Postoperative pathology was hepatic cavernous hemangioma. This case suggests that PET/CT findings of FDG-avid hepatic cavernous hemangioma could mimic malignancy.

Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.

OBJECTIVE: Extra-axial cavernous hemangiomas (ECHs) are sporadic and rare intracranial occupational lesions that usually occur within the cavernous sinus. The aetiology of ECHs remains unknown. METHODS: Whole-exome sequencing was performed on ECH lesions from 12 patients (discovery cohort) and droplet digital polymerase-chain-reaction (ddPCR) was used to confirm the identified mutation in 46 additional cases (validation cohort). Laser capture microdissection (LCM) was carried out to capture and characterise subgroups of tissue cells. Mechanistic and functional investigations were carried out in human umbilical vein endothelial cells and a newly established mouse model. RESULTS: We detected somatic GJA4 mutation (c.121G>T, p.G41C) in 5/12 patients with ECH in the discovery cohort and confirmed the finding in the validation cohort (16/46). LCM followed by ddPCR revealed that the mutation was enriched in lesional endothelium. In vitro experiments in endothelial cells demonstrated that the GJA4 mutation activated SGK-1 signalling that in turn upregulated key genes involved in cell hyperproliferation and the loss of arterial specification. Compared with wild-type littermates, mice overexpressing the GJA4 mutation developed ECH-like pathological morphological characteristics (dilated venous lumen and elevated vascular density) in the retinal superficial vascular plexus at the postnatal 3 weeks, which were reversed by an SGK1 inhibitor, EMD638683. CONCLUSIONS: We identified a somatic GJA4 mutation that presents in over one-third of ECH lesions and proposed that ECHs are vascular malformations due to GJA4-induced activation of the SGK1 signalling pathway in brain endothelial cells.

Thymic cavernous haemangioma in a dog.

A 12-year-old male neutered Australian Shepherd Dog was presented to Charlotte Animal Referral & Emergency with a history of a thoracic mass. On physical examination, physiological parameters were within the normal ranges, and a complete haemogram and serum biochemistry profile were unremarkable except for mild thrombocytopenia. A computed tomography scan revealed a 21 × 15 × 12.7 cm thoracic mass encompassing the cranial mediastinum and extending to the right caudal thorax. The mass was surgically removed and histopathological evaluation revealed that it comprised remnants of the thymus and a neoplasm composed of large blood-filled vascular spaces lined by a single layer of endothelial cells with mild anisocytosis and anisokaryosis. The neoplastic cells had diffuse strong immunolabeling for endothelial cell marker CD31. Multifocally, there were large cystic degenerated areas of thymic tissue lined by plump cytokeratin AE1/AE3-positive epithelial cells. Based on these findings, a diagnosis of thymic cavernous haemangioma (CH) was made. Thymic CH is rare in animals, with the only reported case in a cross bred cow. To our knowledge, this is the first case of a thymic CH in a dog.

Jejunal Cavernous Hemangioma Mimicking Malignancy With Increased Activity on 18 F-FDG PET/CT.

ABSTRACT: A 50-year-old woman underwent 18 F-FDG PET/CT to evaluate possible abdominal malignancy, which was revealed by CT. The images showed a large cystic-solid lesion with peripherally increased FDG activity in the left mid-abdomen. Histopathology of the excised lesion confirmed a jejunal cavernous hemangioma. We reported a rare case of jejunal cavernous hemangioma with FDG accumulation on PET/CT, mimicking malignancy.

Incidence and Risk Factors for Poor Postoperative Visual Outcome After Excision of Orbital Cavernous Venous Malformations.

AIMS: To determine the incidence and risk factors for poor postoperative visual outcome (PPVO) after removal of orbital cavernous venous malformations (OCVMs). METHODS: Retrospective case-note and imaging review for patients undergoing excision of OCVMs, with estimation of odds-ratios (ORs) and relative risks (RRs) for visual loss in relation to the position of the mass, surgical approach, and patient factors. RESULTS: The 290 patients (179 female; 62%) presented at a mean age of 46.4 years: 243/287 (85%) OCVMs were intraconal, with 213/243 (88%) located freely in the posterior two-thirds of the orbit, and 30/243 (12%) wedged tightly in the apex. PPVO was observed in 6.9% (20/290) patients, solely after removal of intraconal lesions, Univariate analysis showed increased risk with preoperative relative afferent pupillary defect (RAPD) (14/107 [13%]; RR 2.9; P = 0.011), apical lesions (9/30 [30%]; RR 5.8; P < 0.001), situated below optic nerve (15/115 [13%]; RR 3.3; P = 0.007), fibrous masses (14/78 [18%]; RR 6.7; P = 0.005), or intraoperative diastolic blood pressure below 50mmHg (10/64 [16%]; RR 2.8; P = 0.007). Multivariate analysis found apical extension (OR 4.9; P = 0.036) and fibrous lesions (OR 10.0; P = 0.035) as strongest predictors for PPVO. The incidence of complete visual loss (no light perception) was 4.1% (12/290); half of these patients had preoperative acuity of counting fingers or worse, 8 (67%) had RAPD, 7 (58%) wedged apical lesions, and 8 (67%) were below the optic nerve. CONCLUSION: PPVO after excision of OCVMs can occur in up to 5% of "free" retrobulbar intraconal lesions and in approximately one-third of apical lesions.

[A clinicopathological classification of space-occupying lesions of the orbit in 1 913 patients from 2000 to 2021].

Objective: To investigate the histopathological classification of orbital space-occupying lesions. Methods: This is a retrospective case series study. The clinical and pathological data of 1 913 tissue specimens from 1 913 patients with space-occupying lesions of the orbit which were examined in the Second Affiliated Hospital, Zhejiang University School of Medicine from January 2000 to December 2021 were collected. The mass lesions were classified based on histogenesis, pathological nature and age. Results: There were 913 males (47.7%) and 1 000 females (52.3%). The lesions were benign in 1 489 patients (77.8%) and malignant in 424 patients (22.2%). Based on histogenesis, there were 521 vasculogenic lesions (27.2%), which rancked first, 407 cystoid lesions (21.3%), 277 lymphoproliferative lesions (14.5%), 182 lacrimal gland lesions (9.5%) and 121 inflammatory lesions (6.3%). By pathological nature, there were 1 489 benign lesions, including cavernous hemangioma (275, 14.4%), dermoid cyst (225, 11.8%), other hemangiomas (199, 10.4%), epidermoid cyst (136, 7.1%) and benign mixed tumor of the lacrimal gland (134, 7.0%), and 257 malignant lesions, including lymphoma (210, 11.0%) and sebaceous gland carcinoma (47, 2.5%). The age of all patients ranged from 0 to 90 years, while 247 lesions (12.9%) occurred in patients aged 0 to18 years, 1 270 lesions (66.4%) in patients aged 19 to 59 years, and 396 lesions (20.7%) in patients aged 60 to 90 years. Conclusions: In 22 years, almost 2/3 benign orbital lesions in the Second Affiliated Hospital, Zhejiang University School of Medicine occurred in young and middle-aged patients, and males were fewer than females. The most common benign orbital tumors was cavernous hemangioma, followed by dermoid cyst and epidermoid cyst. And the most common malignant orbital tumor was lymphoma, which occurred more frequently in older patients.

Pupillary Abnormalities After Excision of Orbital Cavernous Venous Malformations.

AIMS: The aim of this study was to determine the incidence and recovery rate for pupillary abnormalities after excision of orbital cavernous venous malformations (OCVMs). METHODS: Retrospective case-note and imaging review for patients with OCVMs, with an estimation of odds ratios (ORs) in relation to the position of the mass and surgical approach. RESULTS: The 287 included patients (176 female; 61%) presented at a mean age of 46.5 years: 243/287 (85%) OCVMs were intraconal, 253/287 (88%) located in the posterior two-thirds of the orbit, and 29/287 (11%) wedged tightly in the apex. Pupillary changes-varying from minor sectoral paresis (only evident on slit-lamp examination) to a marked mydriasis-were noted in 21% (60/287) of patients and were strongly associated with removal of intraconal (60/243 [25%]; p < 0.001), apical (14/29 [48%]; OR, 4.3; p < 0.001), inferior or inferotemporal (41/105 [39%]; OR, 5.5; p < 0.001) masses. Lateral approaches-either with (23/129; 18%) or without (30/71; 42%) osteotomy-were associated with 88% (53/60) of all abnormalities (OR, 4.1; p < 0.001). Where known, the abnormalities improved in 43/50 (86%), although 15/43 (35%) had a persistent tonic pupil. CONCLUSION: Pupillary abnormalities after excision of OCVMs can occur in up to a quarter of intraconal lesions-particularly those located inferotemporally or inferiorly-and in about a half of apical lesions. Lateral or inferolateral orbital approaches that disrupt the inferior intraconal fat appear to be associated with a higher risk. Most changes resolve or improve markedly, although a third of those affected may have a persistent tonic pupil.

Testicular cavernous hemangioma masquerading as testicular malignancy.

Cavernous hemangiomas are benign tumors of vascular origin that can develop in any part of the body. However, its occurrence in the testis is rare. To the best of our knowledge, we are reporting the first case of a patient with cavernous hemangioma with concern for an extracapsular extension on ultrasound imaging.

Concomitant giant purely intradiploic cavernous haemangioma and multifocal neurotoxoplasmosis.

Purely calvarial or intradiploic cavernous haemangiomas (PICHs) are rare benign tumours accounting for 0.2% of all bone tumours and 10% of benign skull tumours. They are generally small, slow-growing and asymptomatic lesions. Here the authors described an immunocompromised patient with concomitant giant intradiploic ossified globular cavernous angioma and multifocal neurotoxoplasmosis that underwent a combined approach to treat both lesions with an en-bloc resection of the right parietal intradiploic lesion and biopsy of the left occipital subcortical lesion.Indeed, it is essential to exclude the presence of metastases by making a timely differential diagnosis. En-bloc surgical resection of purely intradiploic ossified cavernous angioma is the gold standard treatment and the prognosis after a complete excision is usually excellent with rarer recurrence rate.

Retinal cavernous hemangioma in a newborn: an unusual presentation of a rare tumor.

Retinal cavernous hemangioma (RCavH) is an uncommon, benign, vascular tumor of venous aneurysms. It can be sporadic or inherited in an autosomal-dominant pattern as part of an oculoneurocutaneous syndrome. Some affected patients are asymptomatic, and others have symptoms related to retinal dragging and vitreous hemorrhage. In the case presented here, the tumor was located in the anterior retina overhanging the ciliary body with lens involvement and heterochromia. The differential diagnosis included traumatic hemorrhage, persistent fetal vasculature, juvenile xanthogranuloma, retinoblastoma, medulloepithelioma, and others. Fluorescein angiography documented the slow-filling cavernous aneurysms of RCavH.