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1.
Medicine (Baltimore) ; 103(28): e38919, 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38996140

RESUMO

RATIONALE: Rectal cavernous hemangioma is a rare, benign vascular disease that seldom causes lower gastrointestinal bleeding, characterized by a high rate of misdiagnosis and missed diagnoses. Surgical treatment is considered to be relatively effective; however, it is accompanied by certain employed in the treatment of superficial hemangioma, boasting the advantages of minimally invasive surgery, including safety, effectiveness, reduced trauma, and rapid recovery. However, there is a lack of literature regarding the application of foam sclerosing agents for gastrointestinal hemangiomas. CASE CONCERNS: We present a case of a 60-year-old male who was admitted to our hospital with a history of recurrent hematochezia for >1 year and worsening symptoms for 1 week. The patient's medical history was unremarkable. DIAGNOSES: Following colonoscopy, nuclear magnetic resonance imaging, computed tomography, and other examinations, the final diagnosis was rectal cavernous hemangioma. INTERVENTIONS: Due to the patient's refusal of surgery, endoscopic foam sclerotherapy using a lauromacrogol injection was performed after obtaining informed consent from the patient and their relatives. OUTCOMES: Post-sclerotherapy, hematochezia symptoms ceased, and no adverse reactions were observed. Two months later, colonoscopy and nuclear magnetic resonance imaging showed that the hemangioma had almost completely disappeared, with only a small amount of tumor remnants, yielding a satisfactory curative effect. CONCLUSION: Our findings indicate that endoscopic injection of a lauromacrogol foam sclerosing agent is a safe, effective, and minimally invasive treatment option for gastrointestinal cavernous hemangiomas.


Assuntos
Colonoscopia , Hemangioma Cavernoso , Neoplasias Retais , Soluções Esclerosantes , Escleroterapia , Humanos , Masculino , Pessoa de Meia-Idade , Hemangioma Cavernoso/terapia , Hemangioma Cavernoso/diagnóstico por imagem , Escleroterapia/métodos , Soluções Esclerosantes/uso terapêutico , Soluções Esclerosantes/administração & dosagem , Neoplasias Retais/terapia , Colonoscopia/métodos , Polidocanol/uso terapêutico , Polidocanol/administração & dosagem , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/terapia
2.
BMC Ophthalmol ; 24(1): 311, 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-39054506

RESUMO

Vascular conjunctival tumors are uncommon, usually benign lesions. Here, we report a 65-year-old male who presented with a nasal interpalpebral bulbar firm, oval, and dark-brown and non-mobile conjunctival mass. The systemic and ocular examinations including fundoscopy and gonioscopy were within normal limits. With a diagnosis of conjunctival malignant melanoma (CMM), the patient underwent excisional biopsy, partial sclerectomy, and cryotherapy. Microscopic examination revealed dilated vascular channels filled by red blood cells, separated by fibrous interstitium and no sign of malignancy. Therefore, a diagnosis of conjunctival cavernous hemangioma was made. Our case demonstrates that the conjunctival cavernous hemangioma can mimic malignant conjunctival lesions as well as extrascleral extension of uveal melanoma or uveal prolapse due to scleral necrosis.


Assuntos
Neoplasias da Túnica Conjuntiva , Hemangioma Cavernoso , Humanos , Masculino , Idoso , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patologia , Hemangioma Cavernoso/cirurgia , Neoplasias da Túnica Conjuntiva/diagnóstico , Neoplasias da Túnica Conjuntiva/patologia , Diagnóstico Diferencial , Túnica Conjuntiva/patologia
3.
Spinal Cord Ser Cases ; 10(1): 48, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39009566

RESUMO

INTRODUCTION: Pure epidural spinal cavernous hemangiomas are rare, benign vascular tumors that account for approximately 4% of all spinal epidural tumors. Due to their dumbbell shape and propensity for foraminal invasion, they are often misdiagnosed and inadequately treated. We present a case of a 58-year-old male with extra-osseous cavernous hemangioma to better aid in diagnosis and management of these lesions. CASE PRESENTATION: A 58-year-old male presented with chronic lower back pain, progressive lower extremity weakness, T10 sensory level, absent lower extremity proprioception, hyperreflexia, and an episode of bowel incontinence. Imaging demonstrated T7-T10 homogenous dorsal epidural mass causing cord signal change. He underwent resection with histopathologic exam revealing a pure epidural cavernous hemangioma. CONCLUSION: Spinal epidural cavernous hemangiomas are exceedingly rare lesions that are often misdiagnosed as nerve sheath tumors and meningiomas. Common features include chronic pain and myelopathy as well as T1 isodensity, T2 hyperintensity, and homogenous enhancement. Uniquely, they present as a lobulated, spindled shape with tapered ends in the dorsal epidural space. Both gross and subtotal resection result in favorable neurologic outcomes.


Assuntos
Hemangioma Cavernoso , Doenças da Medula Espinal , Vértebras Torácicas , Humanos , Masculino , Pessoa de Meia-Idade , Vértebras Torácicas/diagnóstico por imagem , Hemangioma Cavernoso/cirurgia , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/diagnóstico por imagem , Doenças da Medula Espinal/cirurgia , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/diagnóstico , Doenças da Medula Espinal/patologia , Neoplasias Epidurais/cirurgia , Neoplasias Epidurais/diagnóstico , Neoplasias Epidurais/patologia , Neoplasias Epidurais/complicações , Imageamento por Ressonância Magnética
9.
Am J Hum Genet ; 111(7): 1370-1382, 2024 07 11.
Artigo em Inglês | MEDLINE | ID: mdl-38917801

RESUMO

Extra-axial cavernous hemangiomas (ECHs) are complex vascular lesions mainly found in the spine and cavernous sinus. Their removal poses significant risk due to their vascularity and diffuse nature, and their genetic underpinnings remain incompletely understood. Our approach involved genetic analyses on 31 tissue samples of ECHs employing whole-exome sequencing and targeted deep sequencing. We explored downstream signaling pathways, gene expression changes, and resultant phenotypic shifts induced by these mutations, both in vitro and in vivo. In our cohort, 77.4% of samples had somatic missense variants in GNA14, GNAQ, or GJA4. Transcriptomic analysis highlighted significant pathway upregulation, with the GNAQ c.626A>G (p.Gln209Arg) mutation elevating PI3K-AKT-mTOR and angiogenesis-related pathways, while GNA14 c.614A>T (p.Gln205Leu) mutation led to MAPK and angiogenesis-related pathway upregulation. Using a mouse xenograft model, we observed enlarged vessels from these mutations. Additionally, we initiated rapamycin treatment in a 14-year-old individual harboring the GNAQ c.626A>G (p.Gln209Arg) variant, resulting in gradual regression of cutaneous cavernous hemangiomas and improved motor strength, with minimal side effects. Understanding these mutations and their pathways provides a foundation for developing therapies for ECHs resistant to current therapies. Indeed, the administration of rapamycin in an individual within this study highlights the promise of targeted treatments in treating these complex lesions.


Assuntos
Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP , Subunidades alfa de Proteínas de Ligação ao GTP , Humanos , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Animais , Camundongos , Feminino , Masculino , Subunidades alfa de Proteínas de Ligação ao GTP/genética , Mutação , Adulto , Pessoa de Meia-Idade , Transdução de Sinais , Hemangioma Cavernoso/genética , Hemangioma Cavernoso/patologia , Adolescente , Sequenciamento do Exoma , Sirolimo/farmacologia , Sirolimo/uso terapêutico , Serina-Treonina Quinases TOR/metabolismo , Serina-Treonina Quinases TOR/genética
11.
Childs Nerv Syst ; 40(8): 2615-2618, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38639803

RESUMO

An 8-year-old boy presenting with left-angle paralysis, tremor in upper and lower extremities, and diplopia was diagnosed with hemorrhage from a mesencephalic cavernous hemangioma. He underwent hemangiomectomy through the occipital transtentorial approach 4 weeks post-hemorrhage, after which Holmes tremor (HT) markedly reduced. A year later, hemangioma has not recurred; he is now independent in his daily activities. Early intervention in the subacute stage allows for the complete removal of brainstem cavernomas (BSCs), with minimal risk of complications or sequelae. Proper timing and surgical approach for BSCs can prevent re-bleeding and improve HT after an initial hemorrhage, without any lasting negative consequences.


Assuntos
Neoplasias do Tronco Encefálico , Hemangioma Cavernoso do Sistema Nervoso Central , Tremor , Humanos , Masculino , Criança , Neoplasias do Tronco Encefálico/cirurgia , Neoplasias do Tronco Encefálico/complicações , Neoplasias do Tronco Encefálico/diagnóstico por imagem , Tremor/etiologia , Tremor/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Hemangioma Cavernoso/cirurgia , Hemangioma Cavernoso/complicações , Hemangioma Cavernoso/diagnóstico por imagem , Procedimentos Neurocirúrgicos/métodos , Tronco Encefálico/cirurgia , Tronco Encefálico/diagnóstico por imagem
12.
Artigo em Chinês | MEDLINE | ID: mdl-38686477

RESUMO

Objective:To explore strategies for preserving facial nerve function during surgeries for rare tumors of the internal auditory canal. Methods:A total of 235 cases of internal auditory canal tumors treated between 2010 and 2023 were included, encompassing vestibular schwannomas, cavernous hemangiomas, meningiomas, and other rare tumors. Various data, including clinical presentations, imaging classifications, and treatment processes, were meticulously analyzed to delineate the characteristics of rare tumors and assess pre-and postoperative facial nerve function. Results:Among all internal auditory canal tumors, vestibular schwannomas accounted for 91.9%. In rare tumors, facial nerve schwannomas constituted 5.3%, cavernous hemangiomas 26.3%, meningiomas 15.8%, and arterial aneurysms 10.5%. Significantly, patients with cavernous hemangiomas displayed pronounced invasion of the facial nerve by the tumor, in contrast to other tumor types where clear boundaries with the facial nerve were maintained. During surgery, individualized approaches and strategies for facial nerve protection were implemented for different tumor types, involving intraoperative dissection, tumor excision, and facial nerve reconstruction. Conclusion:Preservation of the facial nerve is crucial in the surgical management of rare tumors of the internal auditory canal. Accurate preoperative diagnosis, appropriate timing of surgery, selective surgical approaches, and meticulous intraoperative techniques can maximize the protection of facial nerve function. Personalized treatment plans and strategies for facial nerve functional reconstruction are anticipated to enhance surgical success rates, reduce the risk of postoperative facial nerve dysfunction, and ultimately improve the quality of life for patients.


Assuntos
Nervo Facial , Humanos , Feminino , Masculino , Nervo Facial/cirurgia , Pessoa de Meia-Idade , Adulto , Idoso , Neuroma Acústico/cirurgia , Meningioma/cirurgia , Orelha Interna/cirurgia , Hemangioma Cavernoso/cirurgia , Neoplasias da Orelha/cirurgia , Adulto Jovem , Adolescente , Neoplasias Meníngeas/cirurgia
13.
Digit J Ophthalmol ; 30(1): 11-14, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38601899

RESUMO

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.


Assuntos
Hemangioma Cavernoso , Neoplasias Orbitárias , Malformações Vasculares , Adulto , Feminino , Humanos , Criança , Neoplasias Orbitárias/patologia , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/cirurgia , Hemangioma Cavernoso/patologia , Órbita/patologia , Malformações Vasculares/diagnóstico , Pálpebras/patologia
15.
Front Immunol ; 15: 1387465, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38646529

RESUMO

Background: Camrelizumab, a programmed death 1 (PD-1) inhibiting antibody, has demonstrated efficacy in various malignancies and received approval in multiple countries. Despite its therapeutic benefits, camrelizumab is associated with a unique spectrum of immune-related adverse effects (irAEs), predominantly reactive cutaneous capillary endothelial proliferation (RCCEP). However, visceral manifestations of such endothelial proliferations, particularly hepatic cavernous hemangiomas, have not been extensively documented. Methods: This case series retrospectively reviews six patients who developed hepatic hemangiomas following treatment with camrelizumab in combination with other chemotherapeutic agents. The series highlights the clinical course, imaging findings, management strategies, and outcomes associated with this complication. A detailed analysis was conducted to discern the potential causal relationship between camrelizumab therapy and the development of hepatic hemangiomas. Results: All six patients, after varying cycles of camrelizumab-based therapy, presented with hepatic lesions identified as cavernous hemangiomas on imaging. These findings were atypical for metastatic disease and were further complicated by significant clinical events, including massive intra-abdominal bleeding post-biopsy. Discontinuation of camrelizumab led to a reduction in the size of the hemangiomas in two cases, suggesting a potential link between the drug and the development of these vascular lesions. The incidence of RCCEP remained high, and the use of other agents such as bevacizumab did not mitigate the occurrence of hepatic hemangiomas, indicating a possible unique pathogenic mechanism associated with camrelizumab. Conclusion: Hepatic cavernous hemangioma may represent a rare but clinically significant irAE associated with camrelizumab therapy. This series underscores the importance of vigilant monitoring and a high index of suspicion for atypical hepatic lesions in patients undergoing treatment with PD-1 inhibitors. Further studies are warranted to elucidate the pathophysiology of this complication and to establish guidelines for the management and surveillance of patients receiving camrelizumab.


Assuntos
Anticorpos Monoclonais Humanizados , Hemangioma Cavernoso , Neoplasias Hepáticas , Humanos , Anticorpos Monoclonais Humanizados/efeitos adversos , Anticorpos Monoclonais Humanizados/uso terapêutico , Pessoa de Meia-Idade , Feminino , Hemangioma Cavernoso/induzido quimicamente , Neoplasias Hepáticas/tratamento farmacológico , Masculino , Idoso , Estudos Retrospectivos , Adulto , Inibidores de Checkpoint Imunológico/efeitos adversos
16.
Arq Bras Oftalmol ; 87(2): e2023, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38655941

RESUMO

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.


Assuntos
Hemangioma Cavernoso , Neoplasias Orbitárias , Humanos , Hemangioma Cavernoso/diagnóstico por imagem , Hemangioma Cavernoso/patologia , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/patologia , Órbita/irrigação sanguínea , Órbita/diagnóstico por imagem , Órbita/patologia , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/patologia
17.
World Neurosurg ; 186: e273-e282, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38548053

RESUMO

BACKGROUND: Lesions situated within the orbit pose significant challenges in management due to the confined space they occupy and their proximity to critical anatomical structures. The objective of our study is to assess the feasibility of the ipsilateral endoscopic endonasal approach for orbital cavernous hemangiomas and to comprehend the surgical anatomy of the orbital apex and inferomedial orbital structures. METHODS: Thirteen patients (8 women, 5 men), with ages ranging from 25 to 54 years (mean 35.2 ± 8.3 years), with orbital cavernous hemangioma who underwent surgery via the ipsilateral mononostril endoscopic endonasal approach between August 2018 and August 2023 were retrospectively evaluated. Demographic characteristics, clinical data, radiographic images, and clinical outcomes of the patients were collected from digital medical records. RESULTS: The left orbit was more commonly affected (9 left, 4 right). The average postoperative follow-up duration was 22.2 months (range: 6-50 months). Among the 13 cases of orbital cavernous hemangioma, 1 (7.7%) was located in the extraconal compartment, and 12 (92.3%) were situated in the intraconal compartment. Complete surgical resection of the tumor was successfully achieved in all patients. CONCLUSIONS: Our study highlights the potential advantages of employing a purely ipsilateral mononostril endoscopic endonasal approach for orbital surgery, particularly for accessing the orbital apex and managing medial and inferomedial orbital lesions. This technique holds promise for reducing morbidity and enhancing outcomes, especially when combined with careful patient selection, preoperative planning, and advanced endoscopic skills.


Assuntos
Órbita , Neoplasias Orbitárias , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Neoplasias Orbitárias/cirurgia , Neoplasias Orbitárias/diagnóstico por imagem , Estudos Retrospectivos , Órbita/cirurgia , Órbita/diagnóstico por imagem , Cirurgia Endoscópica por Orifício Natural/métodos , Hemangioma Cavernoso/cirurgia , Hemangioma Cavernoso/diagnóstico por imagem , Cavidade Nasal/cirurgia , Cavidade Nasal/diagnóstico por imagem , Resultado do Tratamento , Neuroendoscopia/métodos
19.
Medicina (Kaunas) ; 60(3)2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38541175

RESUMO

Hepatic hemangiomas are the most common benign liver tumors. Typically, small- to medium-sized hemangiomas are asymptomatic and discovered incidentally through the widespread use of imaging techniques. Giant hemangiomas (>5 cm) have a higher risk of complications. A variety of imaging methods are used for diagnosis. Cavernous hemangioma is the most frequent type, but radiologists must be aware of other varieties. Conservative management is often adequate, but some cases necessitate targeted interventions. Although surgery was traditionally the main treatment, the evolution of minimally invasive procedures now often recommends transarterial chemoembolization as the treatment of choice.


Assuntos
Carcinoma Hepatocelular , Quimioembolização Terapêutica , Hemangioma Cavernoso , Hemangioma , Neoplasias Hepáticas , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/terapia , Neoplasias Hepáticas/patologia , Carcinoma Hepatocelular/terapia , Imageamento por Ressonância Magnética/métodos , Hemangioma/diagnóstico por imagem , Hemangioma/terapia , Hemangioma Cavernoso/diagnóstico por imagem , Hemangioma Cavernoso/terapia
20.
Vestn Otorinolaringol ; 89(1): 45-51, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38506026

RESUMO

Intraosseous vascular pathology of the turbinates is extremely rare in the practice of an otorhinolaryngologist and can be presented in various histopathological variants. The article presents two clinical cases in which an intraosseous cavernous hemangioma was hidden under the mask of a hypertrophied middle turbinate. The final diagnosis was established by the results of histological examination. The analysis of these clinical cases indicates that, despite the low prevalence, atypical clinical and CT picture, intraosseous formations of the nasal cavity can be of a vascular nature and certainly require a comprehensive examination, including CT, CT with contrast and/or MRI of the nose and paranasal sinuses. These clinical observations indicate that preliminary embolization of feeding vessels before surgical treatment is not required.


Assuntos
Hemangioma Cavernoso , Crânio/anormalidades , Coluna Vertebral/anormalidades , Conchas Nasais , Malformações Vasculares , Humanos , Conchas Nasais/diagnóstico por imagem , Conchas Nasais/cirurgia , Conchas Nasais/patologia , Tomografia Computadorizada por Raios X/métodos , Hemangioma Cavernoso/diagnóstico por imagem , Hemangioma Cavernoso/cirurgia , Cavidade Nasal/cirurgia
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