Multiple, recurrent, refractory vascular malformations as the primary presenting feature of a PTEN mutation.
Sharabi Safa E,Koshy John C,Hollier Larry H
Pediatric dermatology
Complete history and physical examinations are very important in patients with a vascular anomaly. This brief report highlights the case of a five-year-old male who presented with recurrent arteriovenous malformations of the hand and forearm. The patient also demonstrated additional clinical and diagnostic imaging features consistent with a PTEN Hamartoma-Tumor syndrome. The prompt identification of individuals with this condition is important, given the more locally aggressive nature to the malformations and the increased potential for future malignant disease. The etiology and clinical features associated with PTEN Hamartoma-Tumor syndromes are reviewed in this case.
10.1111/j.1525-1470.2010.01298.x
Intramuscular hemangioma of masseter muscle with prominent formation of phleboliths: a case report.
Kanaya Hiroaki,Saito Yutaka,Gama Nobuyasu,Konno Wataru,Hirabayashi Hideki,Haruna Shin-Ichi
Auris, nasus, larynx
A 14-year-old girl was referred for evaluation and management of progressive, painful swelling of the right cheek. Swelling had been present since 3-year old and had gradually increased in size. Magnetic resonance imaging (MRI) revealed a well-circumscribed, brighter mass in the right masseter muscle with numerous rounded areas of signal hypointensity. Preoperative diagnosis was intramuscular hemangioma of the masseter muscle and surgery was performed. The tumor was completely removed except for a few, small phleboliths. Pathological examination of resected tissue led to a high suspicion of cavernous hemangioma with phlebolithiasis. Nine months postoperatively, the patient developed another painful mass in the right masseter muscle. MRI indicated recurrent hemangioma and further surgery was performed. Careful exploration resulted in completely removal of residual phleboliths accompanied with fibroadipose tissue. Part of the buccal branch of the facial nerve was excised to achieve complete resection of the lesion. Histological examination revealed distinct venous formation in phleboliths adjacent to fibroadipose tissue, demonstrating that both phleboliths and feeding vessels had been left by the previous operation. The present report reviews the literature on intramuscular hemangiomas of the masseter muscle, and discusses diagnostic methods and optimal surgical treatment.
10.1016/j.anl.2007.11.003
Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity.
Alomari Ahmad I,Spencer Samantha A,Arnold Ryan W,Chaudry Gulraiz,Kasser James R,Burrows Patricia E,Govender Pradeep,Padua Horacio M,Dillon Brian,Upton Joseph,Taghinia Amir H,Fishman Steven J,Mulliken John B,Fevurly Rebecca D,Greene Arin K,Landrigan-Ossar Mary,Paltiel Harriet J,Trenor Cameron C,Kozakewich Harry P
Journal of pediatric orthopedics
BACKGROUND:The diagnosis and management of vascular anomalies of the extremities can be challenging as these disorders are uncommon and may clinically overlap. The aim of this paper is to describe the clinical, radiologic, and histopathologic features of fibro-adipose vascular anomaly (FAVA), a previously unrecognized disorder of the limb. METHODS:The clinical, imaging, operative, and histopathologic data from patients with a unique intramuscular lesion of the extremities comprising dense fibrofatty tissue and slow-flow vascular malformations were retrospectively reviewed. RESULTS:Sixteen patients diagnosed with FAVA of the extremity (3 male and 13 female individuals) met the clinical, radiologic, and histopathologic inclusion criteria. The age at presentation ranged from the time of birth to 28 years. The locations of the lesions were: calf (n=10), forearm/wrist (n=3), and thigh (n=3). Fourteen patients presented with severe pain. Seven of the patients with calf lesions had limited ankle dorsiflexion. On imaging, the complex intramuscular lesions replaced muscle fibers with fibrofatty overgrowth and phlebectasia (dilation of the veins). The extrafascial component comprised fatty overgrowth, phlebectasia, and an occasional lymphatic malformation. The histopathologic features comprised dense fibrous tissue, fat, and lymphoplasmacytic aggregates within atrophied skeletal muscle. Adipose tissue also infiltrated skeletal muscle at the periphery of the lesion. There were large, irregular, and sometimes excessively muscularized venous channels and smaller, clustered channels. Other findings include organizing thrombi, a lymphatic component, and dense fibrous tissue-encircled nerves. CONCLUSIONS:The constellation of clinical, radiologic, and histopathologic features constitutes a distinct entity comprising fibrofatty infiltration of muscle, unusual phlebectasia with pain, and contracture of the affected extremity. The clinical and radiologic findings permit the diagnosis of FAVA with major therapeutic implications. LEVEL OF EVIDENCE:Level III.
10.1097/BPO.0b013e3182a1f0b8
Soft tissue vascular tumor-like lesions in adults: imaging and pathological analysis pitfalls per ISSVA classification.
Insights into imaging
OBJECTIVES:To compare the magnetic resonance imaging (MRI) and Doppler ultrasound (DUS) findings with the pathological findings of soft tissue vascular tumors (STVTs) according to the 2018 ISSVA (International Society for the Study of Vascular Anomalies) classification to differentiate vascular tumors from vascular malformations. METHODS:This retrospective study included patients with STVTs who underwent contrast-enhanced MRI and pathological analysis at our hospital between 2010 and 2020. The presumptive diagnosis based on the on-site imaging and histological analysis was compared with imaging and histological analysis conducted off-site utilizing the ISSVA criteria. RESULTS:This study included 31 patients with 31 vascular tumors located in the head and neck (n = 3), trunk (n = 2), and extremities (n = 26). The off-site pathological analysis confirmed benign vascular tumors in 54.8% of cases (non-involuting congenital hemangioma: 35.5%; epithelioid hemangioma: 13%; pyogenic granuloma: 3%; and spindle cell hemangioma: 3%). Based on the off-site histological analysis, 25.8% were reclassified as having a vascular malformation whereas three had other benign lesions. Only phleboliths were associated with a vascular malformation (p = 0.03). The concordance between off-site MRI and pathological findings was fair (k = 0.3902 (0.0531-0.7274)), whereas that between on-site and off-site pathological analyses was poor (k = -0.0949 (-0.4661 to 0.2763)). CONCLUSION:Benign vascular tumors have non-specific imaging features on imaging with some overlap with atypical vascular malformations. Therefore, histological analysis is recommended. Imaging and pathological analyses should be performed in accordance with the ISSVA classification to minimize inter-observer discrepancies. CRITICAL RELEVANCE STATEMENT:Imaging features of benign vascular tumors on MRI are non-specific, leading to discrepancies with pathological findings and potential overlap with atypical vascular malformations. Imaging and histological analyses should be performed in accordance with ISSVA guidelines to improve patient management. KEY POINTS:The imaging features of benign vascular tumors are non-specific. Histological analysis is recommended for soft tissue vascular tumors in adults. Analyses of soft tissue vascular tumors should be performed in accordance with ISSVA guidelines.
10.1186/s13244-024-01712-w
Cavernous Hemangioma of the Tongue Base: A Rare Case.
Cureus
Vascular anomalies encompass a range of conditions affecting blood vessel development, categorized as tumors or malformations. Hemangiomas, the most common vascular tumors, involve abnormal endothelial cell proliferation, particularly in hemangiomas, which are prevalent benign tumors arising from mesenchymal tissue in the head and neck. They manifest as capillary, cavernous, or mixed types, affecting areas like the tongue and lips. Hemangiomas of the tongue base are notably rare, emphasizing the complexity of diagnosis and management due to their uncommon occurrence and potential for complications like bleeding. This report highlights a case of cavernous hemangioma of the tongue base, underscoring diagnostic challenges and management considerations. A Malay man in his late 30s, a nonsmoker and nondrinker, presented with a year-long history of intermittent globus sensation without associated symptoms like odynophagia, dysphagia, intraoral bleeding, or neck swelling. Flexible nasopharyngolaryngoscopy revealed a lobulated bluish mass at the right base of the tongue, prompting a provisional diagnosis of hemangioma. Contrast-enhanced CT suggested an irregular lesion with calcification, leading to MRI confirmation of a well-defined, non-muscle-invasive lesion that favored venolymphatic malformation rather than hemangioma. However, it was confirmed histologically as cavernous hemangioma after excision, where intraoperative findings aligned with initial preoperative clinical assessments.
10.7759/cureus.69759
Vascular lesions: Hemangioma or venous malformation?
Radiology case reports
We present a case of a 62-year-old female who was incidentally found to have a venous malformation. Venous malformations are part of a larger category of slow flow vascular malformations and are associated with various familial syndromes and localized intravascular coagulation. Venous malformations were often misdiagnosed as hemangiomas; however, the treatment modalities of vascular malformations and hemangiomas vary significantly. Here we elucidate the imaging findings of venous malformations from various vascular tumors and other malformations.
10.1016/j.radcr.2024.10.069