Lymphatic malformation

Vascular malformations, which include disorders of the lymphatic or vascular systems, can appear in a variety of ways on radiographs, in the radiological department, and histologically. High-flow lesions with direct arteriovenous connections are known as arteriovenous malformations (AVMs). These lesions can cause soft tissue loss and deformity since they are difficult to diagnose early. This case report describes a 75-year-old female who presented with a severe bluish-purple swelling on her top lip. After conducting a thorough investigation, the patient's condition was quickly identified as AVM...

PURPOSE: Lymphangiomas are benign hamartomas in the spectrum of lymphatic malformations, exhibiting multifaceted clinical features. Spinal involvement is exceedingly rare, with only 35 cases reported to date. Both due to their rarity and chameleonic radiologic features, spinal lymphangiomas (SLs) are usually misdiagnosed; postoperatively, surgeons are thus confronted with an unexpected histopathological diagnosis with sparse pertinent literature and no treatment guidelines available. METHODS: Here, we report the case of a 67-year-old female who underwent surgery for a T6-T7 epidural SL with transforaminal extension, manifesting with spastic paraparesis...

BACKGROUND: Primary lymphedema is the most common form of lymphedema presenting in the pediatric age group. Childhood lymphedema is caused by hereditary or congenital malformations in the lymphatic system that can manifest at birth or during childhood or adolescence. OBJECTIVES: Complex decongestive therapy (CDT) is the cornerstone of conservative management of lymphedema in both adult and pediatric lymphedema patients, although pediatric treatment guidelines are still lacking...

Craniomaxillofacial vascular anomalies encompass a diverse and complex set of pathologies that may have a profound impact on pediatric patients. They are subdivided into vascular tumors and vascular malformations depending on biological properties, clinical course, and distribution patterns. Given the complexity and potential for leading to significant functional morbidity and esthetic concerns, a multidisciplinary approach is generally necessary to optimize patient outcomes. This article reviews the etiology, clinical course, diagnosis, and current management practices related to vascular anomalies in the head and neck...

BACKGROUND: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, and/or scoliosis (CLOVES) syndrome is the most recently described combined vascular anomaly characterized by congenital excessive growth of adipose tissue, vascular malformations, epidermal nevi, and skeletal deformities. This condition exhibits a significant variability in clinical manifestations and a tendency for rapid progression and affects extensive anatomical regions...

Cystic lymphangioma (CL) is an uncommon congenital malformation of the lymphatic system, often occurring in the head, neck, or mediastinum, potentially causing compression symptoms like dysphagia or dyspnea, and in rare cases, neurogenic thoracic outlet syndrome (nTOS). This report details a case of a 38-year-old male with a four-year history of a left lower neck mass, experiencing tingling in his left forearm over the last six months. The examination revealed a left supraclavicular cystic mass, with imaging suggesting CL compressing neurovascular structures...

Cystic hygromas detected prenatally usually have a poor prognosis; hence, a correct and early diagnosis is essential. A prenatal ultrasound may detect a cystic hygroma as early as 10 weeks of gestation. Knowledge of the imaging findings and prognostic factors is necessary for effective perinatal counseling. Nuchal cystic hygromas (NCHs) in fetuses present a rare and challenging medical situation for prenatal care providers. This case report aims to describe a particular case of NCH detected through routine prenatal ultrasound, emphasizing the diagnostic demanding situations, management decisions, and final results...

RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway...

Chylous ascites is the accumulation of triglyceride-rich lymphatic fluid in the peritoneal cavity. We present the case of a four-month-old male admitted for abdominal distension. A large volume of ascites was confirmed by imaging. Paracentesis indicated chylous aspirate and drainage was performed using a pigtail catheter. Total parenteral nutrition was initiated and fluconazole prophylaxis was implemented for seven days. Twenty-six days after admission, abdominopelvic magnetic resonance imaging showed trace ascites but no signs of lymphatic malformation...

Lymphangioma circumscriptum (LC) is an uncommon malformation affecting the skin and subcutaneous tissue. This report documents a case of LC that developed in the scrotum of a 35-year-old male. Upon examination, numerous clusters of clear vesicles were found on the scrotum's surface. The patient had no previous exposure to infections, trauma, surgery, or radiation treatment. A skin biopsy revealed enlarged lymphatic channels in the dermis, aligning with a diagnosis of LC. The patient was treated with cryotherapy using liquid nitrogen, specifically targeting the translucent yellowish vesicles...

BACKGROUND: Graves' disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves' disease are multisystemic and include thyroid orbitopathy; pretibial myxedema, also referred to as thyroid dermopathy; and thyroid acropachy, described as a severe form of thyroid dermopathy. Our paper focuses on an atypical case of thyroid dermopathy. CASE PRESENTATION: An 11-year-old Saudi male presented with a prominent diffuse goiter and exophthalmos...

Vascular anomalies represent a diverse group of disorders of abnormal vascular development or proliferation. Vascular anomalies are classified as vascular tumors and vascular malformations. Significant advances have been made in the understanding of the pathogenesis, natural history, and genetics of vascular anomalies, allowing for improvements in management including targeted molecular therapies. Infantile hemangiomas are the most common vascular tumor of childhood and follow a distinct natural history of proliferation and involution...

Mesenteric lymphangioma is a rare malformation of the lymphatic system. Misdiagnosis of mesenteric cystic lymphangioma can occur due to its rarity and resemblance to other cystic lesions and ascites. The authors report an acute presentation of a mesenteric lymphangioma in a 9-year-old child. Clinical, radiological, and surgical findings are illustrated accordingly. As authors, we aim to add to the limited data of acute presentations of mesenteric lymphangiomas.

BACKGROUND: Vascular malformations belong to the group of vascular anomalies. They are rare congenital diseases resulting from abnormal development of vessels and can arise in any location, often in the head and neck region. Clinical symptoms are variable, functional handicaps and esthetic problems may result. MATERIALS AND METHODS: One differentiates between arteriovenous, lymphatic, venous, and capillary malformations and combinations thereof. Their classification, symptoms, diagnostics, and treatment options are discussed...

Lymphangioma is a congenital malformation of the lymphatic system most often reported in children. Its occurrence in adults is rare. It usually develops in the head, neck, and axillary region. It mimics other conditions, such as cold abscess, simple cyst, hydatid cyst, and hemangioma, on clinical examination. Here, we report a case of cystic lymphangioma in the axillary region of a 32-year-old male. The patient underwent surgical excision and histopathology confirmed cystic lymphangioma. Although it is very rare in adults, cystic lymphangioma should be considered in the differential diagnosis of an axillary mass...

INTRODUCTION: Vascular malformations (VMs) typically appear at birth and grow commensurately with patients. They can vary broadly in vessel type and tissue involvement, and upper extremity (UE) VMs can pose unique functional and aesthetic challenges in children. Given the advent of operative and nonoperative technologies like sclerotherapy and medications, a contemporary review of the surgical management of UE VMs is warranted. METHODS: We performed a retrospective review of all patients who had surgical management of VMs from 2010 to 2021 at The Children's Hospital of Philadelphia...

Sturge-Weber syndrome (SWS), a neurocutaneous disorder, is characterized by capillary malformations (CM) in the skin, brain, and eyes. Patients may suffer from seizures, strokes, and glaucoma, and only symptomatic treatment is available. CM are comprised of enlarged vessels with endothelial cells (ECs) and disorganized mural cells. Our recent finding indicated that the R183Q mutation in ECs leads to heightened signaling through phospholipase Cβ3 and protein kinase C, leading to increased angiopoietin-2 (ANGPT2)...

We describe a case of lymphatic malformation (LM) with snoring as the primary symptom. The patient, an 11-year-old boy, sought medical attention due to "snoring that had worsened over 3 years, accompanied by shortness of breath for 1 month." The preoperative examination showed that the apnea-hypopnea index during sleep was 33.4. The average overnight blood oxygen saturation was 95.3%, reaching a lowest level of 79.9%. Magnetic resonance imaging identified a space-occupying lesion in the postpharyngeal space, leading to significant compression and narrowing of the pharyngeal cavity...

INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is an uncommon vascular anomaly characterized by multifocal cutaneous, visceral, and other soft tissue or solid organ venous malformations. We observed that BRBNS lesions express immunohistochemical markers of lymphatic differentiation. METHODS: BRBNS histopathologic specimens assessed at our institution during the past 27 years were reviewed. Slides from 19 BRBNS lesions were selected from 14 patients (9 cutaneous, 9 gastrointestinal, and 1 hepatic)...

PURPOSE: This study examines the diagnostic potential of whole-body blood pool scintigraphy (WBBPS) using technetium-99 m-labeled red blood cells to detect congenital vascular malformations (CVMs). It aims to compare its efficacy with traditional imaging techniques such as magnetic resonance imaging (MRI) and ultrasonography (USG), emphasizing its potential advantages in terms of characterization of lesions and capacity for whole-body assessment. METHODS: The efficacy of WBBPS and single-photon emission computed tomography (SPECT)/computed tomography (CT) imaging in diagnosing CVMs, comparing them with USG and MRI results, was evaluated in this retrospective study...