Decades of stability of conjunctival vascular malformations in two patients.

Key Clinical Message: Conjunctival hemangioma and lymphangioma are rare and their long-term follow-up description has been scarce. In our two patients, conjunctival vascular and lymphatic malformations remained stable in decades and could be observed without treatment. Abstract: A 65-year-old woman with diabetic retinopathy underwent glaucoma surgery to construct a filtering bleb adjacent to conjunctival hemangioma, and showed bleb function and stable hemangioma for a decade. A 1.5-year-old girl with right eye lid and cheek swelling by orbital to facial lymphangioma was followed for visual acuity development. Conjunctival lymphangioma was stable in 20 years.

Moving Beyond Hemangioma: Interactive, Multidisciplinary, Case-Based Teaching in Vascular Anomalies for Pediatric Residents.

Introduction: Vascular anomalies are a spectrum of disorders, including vascular tumors and malformations, that often require multispecialty care. The rarity and variety of these lesions make diagnosis, treatment, and management challenging. Despite the recognition of the medical complexity and morbidity associated with vascular anomalies, there is a general lack of education on the subject for pediatric primary care and subspecialty providers. A needs assessment and the lack of an available standardized teaching tool presented an opportunity to create an educational workshop for pediatric trainees using the POGIL (process-oriented guided inquiry learning) framework. Methods: We developed a 2-hour workshop consisting of an introductory didactic followed by small- and large-group collaboration and case-based discussion. The resource included customizable content for learning assessment and evaluation. Residents completed pre- and posttest assessments of content and provided written evaluations of the teaching session. Results: Thirty-four learners in pediatrics participated in the workshop. Session evaluations were positive, with Likert responses of 4.6-4.8 out of 5 on all items. Pre- and posttest comparisons of four content questions showed no overall statistically significant changes in correct response rates. Learners indicated plans to use the clinical content in their practice and particularly appreciated the interactive teaching forum and the comprehensive overview of vascular anomalies. Discussion: Vascular anomalies are complex, potentially morbid, and often lifelong conditions; multispecialty collaboration is key to providing comprehensive care for affected patients. This customizable resource offers a framework for trainees in pediatrics to appropriately recognize, evaluate, and refer patients with vascular anomalies.

Surgery versus sclerotherapy versus combined therapy in head and neck lymphatic malformations in the pediatric population: systematic review and meta-analysis.

PURPOSE: To systematically review current literature on the treatment of lymphatic malformations (LMs) of the head and neck to guide treatment strategy. METHODS AND MATERIALS: A systematic review and meta-analysis of literature until 16 November 2021 was performed on treatments of LMs in the head and neck. RESULTS: Out of 9044 articles, 54 studies were eligible for inclusion with 26 studies providing detailed participant data. A total number of 1573 patients with a mean age of 21.22 months were analysed. Comparative meta-analysis did not reveal significant differences two proportions of volume reduction (≥ 50% and 100%) between sclerotherapy and surgical treatment. Regression demonstrated that positive predictors for volume reduction were surgery 17 (95% CI 0.26-34; p = 0.047) and treatment of macrocystic lesions 19 (95% CI 5.5-32; p = 0.006). Treatment of mixed lesions also demonstrated a trend towards achieving a greater volume reduction (p = 0.052). A higher de Serres stage of the lesion had a negative effect on the amount of volume reduction - 3.7 (95% CI - 7.0 to - 0.35; p = 0.030). CONCLUSION: This comprehensive meta-analysis demonstrated no significant difference in volume reduction between various treatment modalities at study level. However, individual patient data indicated that surgery and larger cyst types are associated with a significant higher percentage of volume reduction, whereas a higher de Serres stage negatively impacted the amount of volume reduction. These findings can be used for patient counseling and treatment planning based on cyst type and de Serres stage. However volume reduction constitutes just one objective within a more complex treatment spectrum.

Spinal lymphangiomas: Case-based review of a chameleonic disease entity.

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. Then, we present the results of the first systematic review of the literature on this subject, delineating the clinical and imaging features and the therapeutic implications of this rare disease entity. Results: Our patient was treated with T6-T7 hemilaminectomy and resection of the epidural mass, with complete recovery of her neurological picture. No recurrence was evident at 18 months. In the literature, 35 cases of SL were reported that can be classified as vertebral SL (n = 18), epidural SL (n = 10), intradural SL (n = 3), or intrathoracic lymphangiomas with secondary spinal involvement (n = 4). Specific treatment strategies (both surgical and nonsurgical) were adopted in relation to each of these categories. Conclusion: Gathering knowledge about SL is fundamental to promote both correct preoperative identification and appropriate perioperative management of this rare disease entity. By reviewing the literature and discussing an exemplary case, we delineate a framework that can guide surgeons facing such an unfamiliar diagnosis.

Management of Idiopathic Infantile Chylous Ascites.

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. He began transitioning to nasogastric feeds with plans to eventually resume oral feeds. This case not only highlights the limitations in our abilities to definitively identify the etiology of pediatric chylous ascites but also demonstrates how chylous ascites management can carefully combine conservative and surgical strategies to optimize patient outcomes.

Head and Neck Vascular Anomalies in Children.

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.

Nuchal Cystic Hygroma in Fetus: A Case Report.

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. The etiology of NCHs remains multifactorial and complicated. Despite the fact that a few instances are sporadic, a great proportion has been associated with genetic aberrations, mainly chromosomal anomalies such as Turner syndrome, trisomy 21, and trisomy 18. Recent advances in molecular genetic testing, together with chromosomal microarray analysis and non-invasive prenatal testing, have facilitated the identification of the underlying genetic factors, contributing to a better knowledge of the pathogenesis of NCHs. In fetuses, they pose a complex scientific state of affairs with diverse implications. Advances in diagnostic techniques and genetic testing have notably progressed our capacity to become aware of related anomalies, offering precious insights into diagnosis and management alternatives. However, further research is warranted to get to the bottom of the underlying mechanisms of NCH development, enhance prenatal counseling, and refine therapeutic procedures to optimize outcomes for affected pregnancies.

Immunohistochemical Expression of Lymphatic Endothelial Markers in Blue Rubber Bleb Nevus Syndrome.

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). We recorded the involved anatomical compartments and presence/absence of thrombi or vascular smooth muscle. Immunohistochemical endothelial expression of PROX1 (nuclear) and D2-40 (membranous/cytoplasmic) was evaluated semi-quantitatively. RESULTS: Endothelial PROX1 immunopositivity was noted in all specimens; the majority (89.5%) demonstrated staining in more than 10% of cells. D2-40 immunopositivity was present in one-third (33%) of cutaneous lesions and only 1 gastrointestinal lesion. CONCLUSION: Endothelial cells in BRBNS almost always express 1 or more immunohistochemical markers of lymphatic differentiation.

Clinical Values of Whole-Body Blood Pool Scans and SPECT for Evaluation of Congenital Vascular Malformation.

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. Of the 38 patients, 21 were evaluated using these diagnostic methods, with CVMs classified according to the International Society for the Study of Vascular Anomalies guidelines. Also, this study aimed to elucidate the characteristics between WBBPS, SPECT/CT, USG, or MRI findings and their consistency with the final diagnosis. Results: A total of 21 participants were included in this study, with an average age of 17.7 years old, with female predominance (57.1%). The most common diagnosis was vascular malformations (VMs) (71.4%), followed by combined vascular malformations (14.3%) and lymphatic malformations (9.5%). WBBPS demonstrated positive results in 95.2% of cases. Distinct imaging patterns for each condition were observed, with WBBPS being crucial in locating lesions. Conclusion: The study findings suggested that WBBPS with SPECT/CT could be helpful in detecting occult VM lesions and ruling out a lymphatic malformation diagnosis. Thus, it can be employed in the evaluation of CVMs.

Lymphatic Malformation Initially Presenting as Snoring: A Case Report.

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. This suggested the possibility of a vascular malformation, with a higher proportion of vascular components. The patient underwent resection of the pharyngeal mass and temporary tracheostomy under general anesthesia, and intraoperative freeze and postoperative pathological diagnoses confirmed LM. Postoperative prognosis was favorable.

A Study on Clinico-Pathological Presentation and Management Prospective of Venolymphatic Malformation.

To evaluate the clinical perspective of Veno lymphatic malformation and definitive management in respect to outcome. (1) To discuss clinical presentation, symptomatology of Veno lymphatic malformation. (2) Demonstration of radiological features, diagnosis and management of Veno lymphatic malformation with its complication. This prospective study was conducted on four patients attending ENT-OPD of R.G.Kar Medical College, Kolkata, India who had presented with suspected vascular malformation. The study was conducted from March 2021 to March 2023 for a period of 2 years. The patients were subjected to detailed history and examination. The diagnosis of the Veno lymphatic malformation was based on the results of Doppler ultrasonography, computed tomography and magnetic resonance imaging. In our study there was male predominance. Most of the patients belonged to the 2nd and 3rd decade of life. The main sites of involvement were lateral neck followed by parotid region. The lesion size ranged in between 3.5 × 3.5 cm and 7 × 5 cm. The patient with parotid lesion was found to have phlebolith. Since most of the lesions were small with well-defined margins, we were able to excise the lesions completely without leaving any residue. Out of four cases one patient developed temporary paresis of spinal accessory nerve which resolved eventually. Veno lymphatic malformations are rare and there is no definitive protocol for management and to be individualized. Our study will be helpful for furthering the existing knowledge regarding the management of Veno lymphatic lesion emphasizing the need of multimodality approach in surgical decision making.

Successful outcome with oral sirolimus treatment for complicated lymphatic malformations: a retrospective multicenter cohort study.

Purpose: Sirolimus has emerged as a safe and effective treatment for complicated lymphatic malformations (LMs). We aim to prove the effectiveness and safety of sirolimus as a therapeutic option for patients with complicated LMs. Methods: Fifty-eight patients with complicated LMs treated with sirolimus for at least 6 months at multicenter between July 2018 and January 2023 were enrolled. All patients were administered oral sirolimus starting at 0.8 mg/m2 every 12 hours, with target serum concentration levels of 8-15 ng/mL. Evaluation for clinical symptoms and LMs volume on MRI were reviewed to assess treatment response and toxicities. Evaluation of disease response was divided into 3 values: complete response, partial response (significant, moderate, and modest), and progressive disease. Results: The median age at the initiation of sirolimus treatment was 6.0 years (range, 1 month-26.7 years). The median duration of treatment was 2.0 years (range, 6 months-4.4 years). The most common lesions were head and neck (25 of 58, 43.1%). Forty-six patients (79.3%) demonstrated a reduction in LMs volume on MRI or improvement of clinical symptoms including 2 complete responses. The young age group and the patients who underwent few prior therapies showed better responses. None of the patients had toxicities attributable to sirolimus with a Common Terminology Criteria for Adverse Events grade of ≥3. Conclusion: Oral sirolimus treatment brought a successful outcome without severe adverse effects. It could be the first-line therapy, especially for the young age group of complicated LMs, and an additional option for refractory lesions that did not respond to conventional treatment.

A rare case of a large mesenteric lymphangioma in a 2-year-old child: Case report and review of the literature.

INTRODUCTION AND SIGNIFICANCE: Lymphangiomas are benign tumors that are typically found in the neck and armpit region but can also occur in other locations. The clinical presentation varies depending on their location and size, and surgical resection is the primary treatment option. CASE PRESENTATION: We present the case of a child who presented with a painless and non-obstructing abdominal mass. The mass was diagnosed and underwent complete surgical resection. Subsequent tissue analysis confirmed that the cyst was a lymphangioma. CLINICAL DISCUSSION: These tumors should be considered in the differential diagnosis of cystic lesions in the abdomen, and the importance of performing complete surgical resection is emphasized. CONCLUSION: The importance of complete surgical resection for mesenteric lymphangioma must be emphasized. Partial resection or aspiration should not be performed due to the risk of complications associated with these procedures and the increased risk of recurrence.

A Large Adult Postcricoid Lymphatic Malformation: A Case Report and Literature Review.

Adult-onset lymphatic malformations arising at the postcricoid, a subsite of the hypopharynx, are sporadic. Only one case has been previously reported. In this study, we presented a 36-year-old female presented with globus sensation, dysphagia, and upper airway obstruction, requiring a tracheostomy. A computed tomography scan identified a 5 cm × 4.5 cm × 3 cm multilocular hypodense lesion in the postcricoid. Due to its considerable size, complete resection with function preservation was crucial, and a standard microscopic direct laryngoscopy approach may result in inadequate exposure, while an open transcervical approach may affect functional outcomes and increase surgical complications. We successfully performed an en bloc resection with a transoral endoscopic approach, using laryngeal suspension and a laparoscopic ultrasonic scalpel to preserve aerodigestive functions, ensure rapid recovery, and avoid neck scarring. The patient was decannulated within 2 weeks and remained disease-free after 1 year. The reported cases of adult-onset lymphatic malformations at the postcricoid and hypopharynx were reviewed and summarized for educational purposes.

Sirolimus treatment for intractable lymphatic anomalies: an open-label, single-arm, multicenter, prospective trial.

Introduction: Intractable lymphatic anomalies (LAs) include cystic lymphatic malformation (LM; macrocystic, microcystic, or mixed), generalized lymphatic anomaly, and Gorham-Stout disease. LAs can present with severe symptoms and poor prognosis. Thus, prospective studies for treatments are warranted. We conducted a prospective clinical trial of sirolimus for intractable LAs. Methods: This was an open-label, single-arm, multicenter, prospective trial involving five institutions in Japan. All patients with LAs received oral sirolimus once daily, and the dose was adjusted to ensure that the trough concentration remained within 5-15 ng/mL. We prospectively assessed the drug response (response rate for radiological volumetric change in target lesion), performance state, change in respiratory function, visceral impairment (pleural effusion, ascites, bleeding, pain), laboratory examination data, quality of life (QOL), and safety at 12, 24, and 52 weeks of administration. Results: Eleven patients with LAs (9 generalized lymphatic anomaly, 1 cystic LM, 1 Gorham-Stout disease) were treated with sirolimus, of whom 6 (54.5%; 95% confidence interval: 23.4-83.3%) demonstrated a partial response on radiological examination at 52 weeks of administration. No patients achieved a complete response. At 12 and 24 weeks of administration, 8 patients (72.7%) already showed a partial response. However, patients with stable disease showed minor or no reduction after 12 weeks. Adverse events, such as stomatitis, acneiform dermatitis, diarrhea, and fever, were common with sirolimus. Sirolimus was safe and tolerable. Conclusion: Sirolimus can reduce the lymphatic tissue volume in LAs and may lead to improvements in clinical symptoms and QOL.

Cerebrospinal fluid-lymphatic fistula in a child with generalized lymphatic anomaly treated with targeted blood patch - a rare case report and review of the literature.

Spontaneous intracranial hypotension may result in debilitating postural headaches and severe neurological symptoms due to secondary cerebellar sagging. The most common cause is the cerebrospinal fluid (CSF) leak within the spinal canal. Although previously reported in only a few cases, also paraspinal lymphatic malformations causing vertebral bone destruction may occasionally result in CSF leak to these pathological formations. Here, we present a case of a 9-year-old girl with generalized lymphatic anomaly (GLA) presenting with severe postural headache. Radiological imaging revealed a typical feature of cerebellar sagging. Myelography localized the CSF leakage into vertebral bodies of C7 and Th1, which both were partly involved in pathological paravertebral masses of known lymphatic anomaly, and from there along the right C8 nerve root sleeve into the anomaly. As the C8-nerve root could not be ligated due to the risk of significant neurological injury, we attempted image-guided targeted percutaneous epidural placement of a blood patch directly into the foramen at the affected level. The procedure resulted in obliteration of the fistula and regression of cerebellar sagging, with significant relief of symptoms. Although it is an extremely rare coincidence, patients with paraspinal lymphatic malformations may develop intraspinal CSF leak into these pathological formations. The present case report suggests that besides a direct surgical obliteration of the fistula and sacrificing the nerve root, a targeted percutaneous epidural blood patch may be a possible alternative in the case of a functionally important nerve root.

The discriminative role of PROX-1 immunohistochemistry between venous malformation and lymphatic malformation of the deep type with no visible diagnostic surface skin lesion.

BACKGROUND: Venous malformations (VMs) are distinguished from lymphatic malformations (LMs) when specific diagnostic skin lesions are present. In the deep type, this is difficult by clinico-radiologic evaluation alone. We aimed to investigate the usefulness of lymphatic vessel endothelial cell (LEC) markers for the differential diagnosis of the deep VMs and LMs. METHODS: A retrospective study was conducted based on the medical records of patients with VMs and LMs who underwent biopsy with both D2-40 and PROX-1 immunohistochemistry. We compared the initial clinico-radiological diagnosis with the final pathological diagnosis and identified which ones showed a difference. RESULTS: From 261 patients who had VMs and LMs, 111 remained after the exclusion of those who showed definite surface diagnostic features. After pathological diagnosis with the expressions of D2-40 and PROX-1, 38 of 111 (34.2%) patients' final diagnoses were changed. Among these 38 cases, diagnosis was not changed by D2-40 positivity alone, but changed by PROX-1 positivity alone (52.6%) or by both (47.4%). The diagnostic changes were more frequent in the deep category (43.7%) than in the superficial category. CONCLUSIONS: Identifying the expression of D2-40, and especially PROX-1, in the differential diagnosis of VMs and LMs may provide important treatment guidelines and understanding their natural course.

Mesenteric cystic lymphatic malformation: a rare case report and review of the literature.

Background: Mesenteric cystic lymphatic malformation (LM) is a rare congenital benign malformation in adults, and its location in the mesentery of the sigmoid colon is even rarer. Case Description: We describe a rare case of LM of the mesentery in a 49-year-old woman. The patient was inadvertently identified during a physical examination 1 month earlier. Transvaginal ultrasound and magnetic resonance imaging (MRI) revealed the presence of an intrapelvic mass posterior to the uterus and right anterior to the sigmoid colon. According to the results of the ultrasound, the mass showed hypoechoic solid features with a blood flow signal, and MRI showed that the internal enhancement of the mass was uneven. According to its imaging characteristics, it was preliminarily speculated as a stromal tumor. The patient underwent laparoscopic fenestration and drainage of a sigmoid mesocolic cyst. The patient underwent laparoscopic fenestration and drainage of the sigmoid mesocolic cyst. The pathological diagnosis was cystic lymphangioma of the sigmoid mesangium. After the operation, the patient recovered well without any complications. No recurrence was observed during the 3-month follow-up. Conclusions: LM is a challenging and rare disease, and its diagnosis is difficult. However, the combination of imaging examination and endoscopic ultrasound (EUS) technology can significantly improve the accurate diagnosis rate of the disease. Complete resection is the best choice for definite diagnosis and prevention of recurrence. It has been proved that laparoscopic surgery is a safe and feasible method for the treatment of this disease.

Risk factors for sequelae after surgery for lymphatic malformations in children.

OBJECTIVE: The first-line treatment of lymphatic malformations (LMs) is pharmacological or interventional; however, surgery is still necessary in selected cases. Our aim was to identify factors associated with the occurrence of permanent postoperative complications. METHODS: This was a case series study of children operated on for LMs between 2001 and 2021 and followed-up in our institution. Patients who presented sequelae derived from surgical treatment (cases) and those who did not (controls) were compared. RESULTS: We included 112 children who underwent surgery for LMs in different centers. Forty-nine cases and 63 controls were included (58% male), with a mean age of 34 months. Patients younger than 1 year presented more complications than older children, 59% (n = 29/49) vs 41% (n = 24/49), respectively (P = .02). LMs were in the cervicofacial region in seven patients in the control group compared with 30 of the cases (P ≤ .001), with microcystic malformations the most associated with sequelae (n = 11/15; P = .019). Concerning permanent complications, 88% were neurological (n = 43/49), mainly peripheral facial palsy (n = 17). There was greater postoperative residual disease in controls compared with cases (65% vs 14%, respectively; P ≤ .0001). However, following a second procedure in the control group, there was no significant difference in long-term cure rates (P = .38). CONCLUSIONS: The risk of sequelae following surgery for LM increases significantly in patients younger than 12 months in cervicofacial and microcystic malformations. Because non-radical resections are associated with fewer complications and an optimal long-term cure rate, we consider that aggressive surgical approaches should be avoided if the absence of sequelae is not guaranteed.