Small bowel lymphatic malformations are rare benign tumors of the lymphatic system, accounting for < 1% of intra-abdominal lymphatic malformations. They pose diagnostic challenges due to nonspecific presentations and are often misdiagnosed. To analyze clinical features, management, and outcomes of small bowel lymphatic malformations in adults through a case report and scoping review. A 47-year-old female with chronic abdominal pain underwent laparoscopic resection of an ileal lymphatic malformation. A Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews-guided scoping review of 97 adult cases (1991-2024) was conducted, extracting demographics, diagnostics, management, and outcomes. The cohort included 41 case reports and 2 case series (46% female, mean age 45.6 years), most commonly presenting with abdominal pain (74%), gastrointestinal bleeding (39%), or asymptomatic masses (9%). Lesions were predominantly in the jejunal mesentery (52%), with a mean size of 9.2 cm. Computed tomography identified lesions in 87% of cases, showing multiloculated cystic masses (78%). Surgical resection was the primary treatment (91%), with segmental bowel resection most frequent (65%). Complications occurred in 24% (infections: 13%), and recurrence in 11% (linked to incomplete resection). Complete excision achieved symptom resolution in 93%. Small bowel lymphatic malformations are rare but may cause significant morbidity. Surgical resection is curative, with laparoscopy emerging as a viable approach. Preoperative diagnosis remains challenging; heightened imaging awareness and complete excision are critical to prevent recurrence.

Sclerotherapy remains the standard for interventional treatment of slow-flow vascular malformations. However, bleomycin electrosclerotherapy (BEST) has shown promising results in the management of recurrent lesions. One notable adverse effect of BEST is the postinterventional development of skin hyperpigmentation. The aim of this study is the analysis of accidental skin hyperpigmentation after BEST of slow-flow vascular malformations.This retrospective study at our interdisciplinary vascular anomalies center investigated the occurrence of skin hyperpigmentation after bleomycin electrosclerotherapy of slow-flow vascular malformations over a period of 21 months documented clinically and in photographic findings, as well as related interventional treatment parameters with subsequent exploratory threshold analyses at 0.10 and 0.15 mg/kg. Subsequently, a comparison was made with recent publications reporting hyperpigmentation after bleomycin administration.During the observation period, 72 patients were included with a total of 80 BEST procedures. Bleomycin-related skin hyperpigmentation was documented in 4 of 7 lymphatic malformation (LMs), 20 of 44 venous malformation (VM)and in 16 of 29 combined venolymphatic vascular malformations associated with other anomalies. On average, 27.1 application series of reversible electroporation per intervention were performed (range 1-85).An average of 8.37 mg bleomycin was administered to LMs, 5.31 mg to VMs and 8.03 mg to the combined group in each session. Hyperpigmentation was more frequent with the hexagonal electrode: 33/56 (58,9 %); Needle-Foil Electrode (NFD) 6/19, Variable Geometry Device (VGD) 1/5. Rates were similar across entities (hexagonal: LM 3/5, VM 17/31, combined 13/20). Overall, bleomycin was administered intralesional 46 times with an average dose of 0.09 mg/kg bw (range 0.008-0.23) and intravenously 34 times, 0.22 mg/kg bw (range 0.13-0.5). Hyperpigmentation was more frequent after intravenous administration (61.8 %) than intralesional (41.3 %), likely reflecting higher dosing. A threshold dose of ≥0.10 mg/kg bleomycin was associated with a higher risk ratio for hyperpigmentation (RR 2.30, 95% CI 1.27-4.15).The frequency of skin hyperpigmentation following BEST seems to be analog to bleomycin-induced flagellate dermatitis and appears more frequently when using the hexagonal electrode and a higher bleomycin dosage per kg bodyweight (bw). · Puncture related skin hyperpigmentation is a frequent but often underestimated adverse effect of Bleomycin electrosclerotherapy (BEST) in slow-flow vascular malformations.. · Our findings suggest that electrode geometry and puncture-related trauma contribute substantially to this side effect.. · Recognizing these factors allows for more informed electrode selection and patient counseling to minimize the risk and improve cosmetic outcomes after BEST.. · Exploratory analyses suggest higher mg/kg dosing increases hyperpigmentation risk. When clinically feasible, consider dose minimization especially in cosmetically sensitive areas.. · Loeser JH, Schramm D, Cucuruz BR etal. Bleomycin Electrosclerotherapy and Skin Hyperpigmentation in Slow-flow Vascular Malformations: A Retrospective Monocentric Analysis. Rofo 2026; DOI 10.1055/a-2783-4420.

Extremely Rare Case of Mastoid Lymphatic Malformation Mimicking Atypical Abscess.

Intestinal lymphangiectasia is a protein losing intestinal disease caused by congenital malformation or obstruction of intestinal lymphatics. Based on etiology, it is classified as primary or secondary. Primary Intestinal Lymphangiectasia (PIL) is a rare disorder of intestinal lymphatic dysfunction and may present with a wide spectrum of clinical manifestations but it very infrequently presents as intussusception in children. To the best of our knowledge this is the second only reported case in children, both cases being described from the Indian subcontinent. A 12-year-old male presented complaining of abdominal pain for one week. Examination revealed a palpable mass in the right upper quadrant and abdominal tenderness. A provisional diagnosis of acute intestinal obstruction was made and the child underwent an emergency laparotomy which revealed a segment of distal ileum displaying intussusception. On cut opening, no growth was seen. Histopathology of the telescoped segment showed many ectatic and dilated lymphatic channels filled with lymph. PIL should be considered in the differential diagnosis in children presenting with intestinal obstruction.

Infected lymphatic malformation disguised as constipation

Vascular anomalies are a group of common endothelial disorders that manifest a wide range of overlapping phenotypes, which complicate diagnosis. Next-generation sequencing (NGS) has led to the ability to detect low-frequency somatic variants, which may aid in the correct diagnosis and treatment of patients. Our goal was to identify the pathogenic variants in affected tissue taken from a cohort of 58 unrelated patients with various clinically diagnosed vascular anomalies. DNA was extracted from fresh/frozen affected tissue samples and evaluated using a custom 735 vascular anomaly/cancer gene NGS panel down to 1% somatic mosaicism. Pathogenic or likely pathogenic variants were identified in 47% (27/58) of vascular anomaly tissue biopsies, including 61.5% (16/26) of lymphatic malformation (LM), 15% (3/20) of hemangioma (congenital and infantile), and 67% (8/12) of other various vascular anomalies. Two novel variants, PIK3CA c.3205_3206insTTTT (p.*1069Pheext*4) and PIK3R1 c.1384_1395del (p.Glu462_Arg465del), were identified in LM tissue. In addition, we report a likely pathogenic variant GNA14 c.512C>T (p.Thr171Ile) identified in a GLUT-1 positive infantile hemangioma lesion. The majority (52%) of the negative results were in infantile hemangioma tissue, for which a genetic cause has not yet been established. The 735 gene vascular anomaly/cancer NGS panel is an effective way to detect low levels of somatic mosaicism in these lesions. Given the challenge that many vascular anomalies present to diagnose, genetic testing is an invaluable tool for clinicians to utilize in the process of diagnosis and determining treatment.

Perirectal vascular malformations are uncommon and difficult lesions due to their deep location and proximity to vital pelvic structures. Traditional treatments include endoscopic, percutaneous, or surgical methods, each with potential risks. We aim to describe a novel, minimally invasive transperineal approach technique for treating perirectal venous and lymphatic malformations using combined polidocanol and bleomycin sclerotherapy. Three patients with perirectal vascular malformations were treated using a transrectal digital-guided (finger) approach under fluoroscopic control. After lesion mapping with ionic or non-ionic contrast, sclerotherapy was performed using polidocanol-based foam combined with bleomycin. All procedures were technically successful. The approach allowed accurate localization, safe puncture, and effective sclerosis of the lesions while reducing procedural trauma. Postoperative pain was mild and self-limited. No cases of systemic toxicity, deep venous thrombosis, or tissue necrosis were observed during follow-up. The transperineal approach provides a safe and effective alternative for treating perirectal vascular malformations, offering excellent anatomic control and reduced morbidity. Combined polidocanol-bleomycin sclerotherapy appears to be a feasible and well-tolerated therapeutic option; however, larger studies are needed to confirm its efficacy and long-term outcomes.Clinical ImpactThe transperineal approach for the management of slow-flow vascular malformations represents a practical, safe, and reproducible therapeutic option that provides minimally invasive access to complex perirectal lesions. By eliminating the need for endoscopic instruments or major surgical procedures, it reduces both procedural risks and associated costs. Its technical simplicity and minimal equipment requirements facilitate its implementation in most vascular centers, broadening access to specialized care across various clinical settings.

Cystic lymphangioma (CL) or cystic hygroma is a rare benign lymphatic malformation typically observed in children. Adult presentation is extremely uncommon and often leads to diagnostic difficulties. The head and neck region is the most common site of occurrence, although CL can be present elsewhere in the body including the axilla, mediastinum, groin, and retroperitoneum. Though rare in adults with only a few cases reported in the literature, cystic lymphangiomas should be included in the differential diagnosis of neck masses. Imaging is key to preoperative assessment, while surgical resection remains the cornerstone of treatment. We report a case of a 66-year-old male presented a cervical cystic lymphangioma, and discuss the presentation, diagnosis and management of this pathology.

Aim . To assess the diagnostic features and accuracy of differential diagnosis of primary neck masses in pediatric patients, emphasizing the role of a reference center. Materials and methods. A retrospective analysis was conducted patients (aged 1 month to 17 years) who underwent surgical treatment at the Dmitry Rogachev National Research Center (Moscow, Russia) between 2012 and 2022. Inclusion criteria were as follows: age under 18 years, presence of a primary non-visceral neck mass, and confirmed histopathological diagnosis. Results . This study was performed using data collected from 153 patients. The study cohort included malignant neoplasms in 34.6% (53/153), benign neoplasms in 29.4% (45/153), and lymphatic malformations in 36.0% (55/153) of cases. The median age at disease onset was 1.40 years (0.01; 5.12), and at hospital admission – 2.58 years (1.02; 7.86). Lymphatic malformations were most commonly diagnosed in the prenatal and neonatal periods (52.7%, 29/55), malignant neoplasms typically presented before the age of 3 years (56.6%, 30/53), while benign neoplasms were more common in children older than 3 years (80.0%, 36/45). In 55.5% of cases, the initial outpatient diagnosis was revised upon hospitalization. Diagnostic biopsy performed outside of reference centers proved insufficiently informative: an accurate initial diagnosis was made in 23.5% (36/153) of patients in non-specialized facilities. Initial histopathological examination was carried out at the Dmitry Rogachev National Research Center in 54.9% (84/153) of cases and remained unchanged in 98.7% (151/153) following internal review. Conclusion . Non-visceral neck masses in children are frequently misdiagnosed at the outpatient stage. This study highlights the importance of a multidisciplinary approach – including imaging, biopsy, and slide review in reference centers – to improve diagnostic accuracy and guide optimal treatment strategy.

Introduction and Importance: Mesenteric cystic lymphangiomas are rare intraperitoneal benign tumors of the mesentery. They are thought to arise from lymphatic vessel malformation of unknown etiology during development. They are extremely rare in adults. They occur very rarely in the peritoneum. Preoperative diagnosis is challenging. Radiologic investigations are important, but histopathology is required for definitive diagnosis. Complete surgical excision is the standard treatment. Case Presentation: A 30-year-old male patient presented with mild abdominal pain of 10 years’ duration. He appeared chronically unwell. All vital signs were in the normal range. There was a palpable abdominal mass in the right lower quadrant. CT scan suggested mesenteric cystic lymphangioma, which was confirmed by histopathology. Laparotomy with en bloc excision of the mass and ileoileal end-to-end anastomosis was performed. The patient was discharged on the 10th postoperative day and resumed normal activity. Clinical Discussion: Mesenteric cystic lymphangioma in adults is exceedingly rare and often presents with vague, nonspecific abdominal symptoms, making preoperative diagnosis difficult. Radiologic imaging, particularly CT scan, plays an important role in the diagnosis, but histopathologic examination remains the gold standard. Complete surgical excision with negative margins is the treatment of choice to prevent recurrence and potential complications such as obstruction, perforation, or infection. Conclusion: Mesenteric cystic lymphangioma should be considered in adults presenting with chronic abdominal mass or discomfort. Management options include aspiration and injection of sclerosant agents, radio-frequency ablation, and targeted immune-therapy. However, surgical excision remains the standard curative treatment, preferably via an open approach.

A randomised study examining the utility of lauromacrogol foam sclerotherapy vs pingyangmycin in treatment of pediatric lymphatic malformations --a single center report from China.

Advances in Sclerosants for Low-Flow Vascular Malformations.

Cell-free DNA obtained during sclerotherapy as a method for molecular analysis of venous and lymphatic malformations

Laparoscopic-assisted resection with adjunct sclerotherapy for abdominal lymphatic malformations: Long-term outcomes from a large cohort study.

ObjectiveThis study aimed to provide a clinical reference for prenatal diagnosis by summarizing the ultrasound manifestations and classifications of fetal limb–body wall complex (LBWC).MethodsWe retrospectively reviewed cases of LBWC diagnosed through prenatal ultrasound examination at Peking Union Medical College Hospital and Xuzhou Maternal and Child Health Hospital between 2012 and 2023. The primary prenatal ultrasound imaging features and associated malformations were recorded and classified into two categories based on the presence (type I) or absence (type II) of craniofacial anomalies.ResultsAmong 37 fetuses with LBWC, 4 were classified as type I, 31 were classified as type II, and 2 exhibited features of both type I and type II concurrently. All fetuses had varying degrees of thoracoschisis or gastroschisis with visceral herniation. A total of 35 fetuses had limb abnormalities, and 11 had craniofacial abnormalities. All fetuses showed varying degrees of spinal curvature, and 23 had umbilical cord abnormalities. In addition, 32 fetuses had other abnormalities, including a persistent extraembryonic coelom in 12 fetuses, an amniotic band in 9 fetuses, nuchal translucency thickening in 5 fetuses, nuchal cystic hygroma in 3 fetuses, an invisible bladder in 2 fetuses, and external genital anomalies in 1 fetus. All cases resulted in induced termination.ConclusionFetal LBWC has characteristic ultrasonographic features and can be diagnosed in the first trimester. An accurate prenatal ultrasound assessment is essential to enable clinicians to offer future parents the necessary information and counseling concerning the prognosis of this type of anomaly.

Orbital compartment syndrome secondary to orbital venous – lymphatic malformation managed with bleomycin sclerotherapy

Cystic lymphatic malformations are rare, hemodynamically inactive, benign, mature lymphatic malformations consisting of abnormal lymphatic vessels and cysts of various sizes and shapes. Its common site is cervico-facial region, followed by axilla, superior mediastinum, mesentery and retro peritoneal region. Involvement of the upper arm is rare. A case of 5 year female presented with Swelling over left arm since birth, restriction of limb movement since 1 year, History of injection therapy of 4 cycle every 20 days during 1 to 2 years of age, after which swelling subsided and again recurrence of swelling seen since last 2 yr. Swelling was 15 X 8 X 5 cm on postero-lateral aspect of left arm, cystic and transilluminant. USG Showed heterogeneous lesion with cystic spaces measuring 9.5 X 4 X 1.6 cm, along the subcutaneous plain with minimal flow within the lesion on doppler study. MRI Suggestive of Multilocular T2 hyperintense areas seen involving the skin and subcutaneous plane represent cavernous lymphangioma congenital with superadded arterio venolymphatic malformation within the interstitium. Complete surgical excision was done. Congenital lymphatic malformation are rare on arm complete surgical excision is best for congenital cystic malformation at rare locations

A uncommon benign lymphatic malformation called Lymphphangioma Circumscriptum (LC) is caused by dilated lymphatic veins in the epidermis and subcutaneous tissue.

Lymphatic malformation (LM) is a congenital anomaly of the lymphatic system that can affect various anatomical sites, most commonly skin and subcutaneous tissues. Treatments that were historically used, including surgery, laser therapy (pulsed dye laser [PDL] and CO2 laser), and sclerotherapy, can be associated with complications such as bleeding and lesion recurrence. Oral sirolimus is effective in treating LMs but can be associated with systemic side effects, including immunosuppression and metabolic disturbances. Targeting the mTOR pathway, topical sirolimus effectively treats superficial LMs with minimal adverse effects compared to systemic administration. Several studies have reported that topical sirolimus shows comparable outcomes with minimal side effects. We present the case of a 19‐year‐old woman with bleeding from a superficial LM on the lateral aspect of her upper limb. Previous treatments, including carbon dioxide laser therapy and PDL, were ineffective. Within 3 months after initiating 0.1% topical sirolimus application twice daily, a noticeable reduction in lesion size and bleeding was observed, with no adverse effect.

ABSTRACTCystic lymphatic malformations (LMs) are congenital anomalies characterized by the formation of dilated lymphatic channels that can infiltrate adjacent structures and cause significant morbidity. Somatic activating single nucleotide variants in PIK3CA have been identified in the majority of these lesions, yet the precise mechanisms underlying the role of these variants in LM progression remain unclear. Here, we investigated the role of Angiopoietin‐2 (Ang2) downregulation downstream of pathogenic PIK3CA variants in the pathogenesis of LMs and delineated a novel inhibitory mechanism for autocrine Ang2 in the lymphatic vasculature. Transcriptomic profiling of patient‐derived LM endothelial cells (LMECs) with PIK3CA variants revealed Ang2 as one of the most significantly downregulated genes. Overexpression of ANG2 in LMECs and normal human dermal lymphatic endothelial cells significantly suppressed their proliferation and inhibited VEGFR3 expression. In contrast, non‐cell autonomous derived or exogenous ANG2 significantly promoted LMEC viability and increased AKT activity. Treatment of LMECs with the PI3K inhibitor alpelisib, but not the mTOR inhibitor sirolimus (rapamycin), rescued autocrine ANG2 expression and significantly downregulated VEGFR3. Alpelisib or sirolimus in combination with ANG2 overexpression significantly reduced LMEC viability compared to ANG2 overexpression or drug treatment alone. Finally, ANG2 overexpression in LMECs suppressed the LM phenotype in a murine xenograft model. Together, our findings suggest that targeting autocrine Ang2 signaling may be a viable option for suppressing pathological lymphangiogenesis.