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.

Venous malformations (VMs) located in the anterior mediastinum are rare. Thus, diagnosis using imaging is often challenging, and they are typically diagnosed only after total tumor resection. Herein, we report a case of VM located in the anterior mediastinum diagnosed using computed tomography (CT) and magnetic resonance imaging (MRI). A 56-year-old woman presented for further evaluation of an anterior mediastinal mass observed during a chest CT. On CT, the mass was observed to have scattered calcifications and early and persistent enhancement with contrast material pooling dorsally in the delayed phase. On MRI, the mass was isointense on T1-weighted imaging and hyperintense on T2-weighted imaging without flow voids. From these images, we suspected the mass to be a VM, but the possibility of an arterial malformation/fistula could not be ruled out. Initially, a contrast material was injected via the arm, but to improve differentiation, it was also injected via the leg. The 4D-CT of the leg indicated no early enhancement of the mass; however, gradual enhancement was observed. This led to a definite diagnosis of VM. As she had no symptoms, we opted for a CT follow-up, and the mass remained stable for one year post-diagnosis. This case report underscores the usefulness of injecting contrast material through the leg in distinguishing VM from AVM/Fs in the anterior mediastinum.

In this study, we successfully synthesized an innovative 1D-Zn(II) coordination polymer, denoted as [Zn(L)(H2O)2]n, employing the Schiff base {4-[(2-hydroxy-3-methoxy-benzylidene)-amino]-benzoic acid} (H2L). The Schiff base was obtained through the reaction of 4-aminobenzoic acid and o-vanillin under slow volatilization conditions. The resulting compound exhibits remarkable green fluorescence emission properties, indicating its potential as a novel fluorescent and sensing material. Hydrogels based on hyaluronic acid (HA) and carboxymethyl chitosan (CMCS), denoted as HA/CMCS hydrogels, were synthesized using a chemical method. Additionally, we utilized bleomycin as a model drug to synthesize a novel bleomycin metal gel and assessed its anti-hemangioma activity. Molecular docking simulations revealed that the Zn complex can form stable bonds with the key target, involving the methoxy and carboxyl groups on the Zn complex.

Hemangiomas are benign vascular tumors and are classified into cavernous, capillary, and mixed, with the head and neck area as the most common site. Hemangiomas are common in pediatrics and rare in adults. Diagnosing cavernous hemangioma is challenging and requires a complete history, proper physical examination, and several radiological modalities to improve diagnostic accuracy because it is uncommon in adults. Herein, we present a case of a 66-year-old female Saudi patient with cavernous hemangioma from the diagnosis until the surgical treatment. No previous studies are reported in Saudi Arabia and this is a rare presentation of cavernous hemangioma at this age. Cavernous hemangioma in the parotid gland in adults is uncommon and is difficult to diagnose. Therefore, a thorough physical examination and several radiological modalities are required to improve diagnostic accuracy. The most effective treatment of cavernous hemangioma in adults is surgical resection.

UNASSIGNED: Hemangiomas, abnormal growths of vascular endothelial cells, are common vascular tumors in children. In contrast, their prevalence is 1-3 % in full-term newborns. Their unique location and associated complications can cause significant distress for patients and families. Prompt treatment is crucial to prevent complications such as fertility issues, hemorrhage, or other related problems. This case study explores the diagnosis and management of scrotal hemangiomas, emphasizing the importance of timely intervention.
METHODS: A 10-year-old boy with a scrotal hemangioma since birth underwent surgical excision due to increased discomfort caused by a new lesion. 2.5 × 2.3 cm hemangioma was successfully removed through En Bloc Excision. The patient experienced a swift recovery, and histopathologic analysis confirmed the diagnosis of cavernous hemangioma. This case underscores the importance of careful monitoring and decisive intervention in managing scrotal hemangiomas.
UNASSIGNED: Scrotal hemangiomas often present challenges in diagnosis, mimicking malignant tumors. Clinical examination, ultrasonography, and histopathology are crucial for accurate diagnosis. Various surgical techniques, including En Bloc Excision, have been employed, with postoperative care tailored to individual cases. Precise preoperative diagnosis is essential to distinguish scrotal hemangiomas from other conditions and guide appropriate management strategies.
CONCLUSIONS: This case study highlights the management of a scrotal hemangioma through En Bloc Excision, emphasizing the importance of considering definitive treatment options. The comprehensive scrotal examination is crucial for accurate diagnosis and effective management of this rare vascular tumor.

Lipomas are common benign mesenchymal tumours, whereas lipomatoses are uncommon. Familial multiple lipomatosis (FML) is a rare syndrome characterized by multiple usually painless lipomas which may be associated with other conditions. FML is considered to be genetic, with various patterns of inheritance suggested. In this case report, we described a case of multiple familial lipomatosis that was misdiagnosed as dercum\'s disease.

Vascular anomalies can be categorized into two groups: on one side the congenital vascular malformations, on the other hand vascular tumours. The most common benign vascular tumour are infantile haemangiomas. Those occur in the first few weeks of life and then show a characteristic pattern of growth and regression. Vascular malformations on the other hand are abnormal vessels in addition to the normal vascular system. They can occur in all systems, capillary, venous, arterial and lymphatic.

Head and neck vascular pathology is routinely encountered by the maxillofacial surgeon. Although these anomalies have been traditionally managed by surgical means, adjunctive therapies have been popularized in recent years. The use of laser therapy has gained attention for its ability to better access and to provide more predictable outcomes in the highly intricate and vascular areas of the head and neck. Laser therapy allows for the selective targeting of diseased tissue while maintaining the integrity of surrounding healthy tissue.

暂无摘要。

暂无摘要。