Lymphatico-Venous Malformation in an Adult

INTRODUCTION

Lymphatico-venous malformation is a rare congenital anomaly of the lymphatic system that leads to the formation of a benign cystic tumour, most commonly in the posterior triangle of the neck. They are most frequently observed in children aged 3 to 5 years and are rare in adults.^[1] Various theories exist regarding its embryological origin, with the most widely accepted theory suggesting a failure in the proper union of primary lymphatic spaces with the central lymphatic system or inadequate development of the venous system. Some cases are associated with respiratory infections or minor trauma.^[1] Dilated lymphatic vessels, caused by occlusion due to congenital issues or acquired factors such as trauma and infection, may lead to the formation of this malformation.^[2] They may remain asymptomatic for long periods but can grow large and, depending on the tumour's location, may cause dysphagia or respiratory difficulties.^[1] Contrast-enhanced magnetic resonance imaging (MRI) demonstrates the extent of the lesion and helps to differentiate between haemangiomas and other venous, lymphatic, and arterial lesions. Doppler ultrasound can confirm the flow of the lesion and help to differentiate the types of malformation.^[3] Treatment is based on the size, location, symptoms, and cosmetic disfigurement and includes surgical resection and sclerotherapy.^[4]

CASE REPORT

A 26-year-old female presented with a painless swelling on the left side of the neck for eight months. There was no history of trauma, fever, dysphagia, or change in voice. On examination, an oval swelling measuring about 6 cm × 4 cm was noted in the upper left side of the neck, extending superiorly 3 cm from the mastoid tip and inferiorly 2 cm from the midpoint of the left clavicle, medially 1 cm from the posterior border of the left sternocleidomastoid muscle, laterally 2 cm from the anterior border of the left trapezius muscle [Figure 1]. The skin over the swelling appeared normal. On palpation, the swelling was soft and cystic in consistency, with no well-defined margins. Neither pulsation nor bruit was noted. Ultrasonography revealed a cystic lesion with septations in the left posterior triangle region, consistent with a lymphatic cyst. MRI with gadolinium showed subtle enhancement with multiple septations noted in T1 signals in the left posterior triangle region, suggesting a lymphatic cyst [Figures 2a and b]. She underwent excision under general anaesthesia [Figure 3]. Histopathology showed thin-walled dilated lymphatic channels and some dilated spaces containing proteinaceous material. The lining epithelium consisted of flat endothelial cells with numerous thick-walled, congested vessels. The wall showed mature adipocytes and aggregation of lymphocytes, suggestive of lymphaticovenous malformation [Figure 4]. There was no recurrence of lesions during a 1-year follow-up period.

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Figure 1:

Clinical picture showing cystic swelling in the left posterior triangle of the neck (black arrow).

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Figure 2:

(a) Gadolinium enhanced MRI axial section showing subtle enhancement with multiple septations in T1 signals in left posterior triangle region deep and posterior to left sternocleidomastoid muscle, b) T-weighted MRI coronal section (arrow pointing the lesion).

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Figure 3:

Intraoperative image of excision of cyst.

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Figure 4:

Histopathological image showing plenty of thin-walled dilated lymphatic channels (black arrow) along with thick-walled congested vessels (blue arrow). Surrounding stroma showing aggregates of lymphocytes (green arrow). Haematoxylin and eosin, 40x.

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DISCUSSION

In 1982, Mulliken and Glowacki categorised vascular anomalies into hemangiomas and vascular malformations based on their histology, biological behaviour, and clinical presentation. Unlike haemangiomas, which typically undergo proliferation, vascular malformations do not proliferate but gradually increase in size.^[5] Vascular malformations are categorised according to the type of blood flow into low-flow lesions (capillary, venous, lymphatic) and high-flow lesions (arterial). High-flow lesions feel firm when palpated, whereas low-flow lesions are soft and compressible.^[3]

Microscopically, two lymphatic malformations have been identified: macrocystic and microcystic. Macrocystic lesions are large, soft masses with cysts larger than 2 cm that respond well to sclerosing agents, while microcystic lesions are smaller, raised formations that can be treated surgically. Histopathologically, the lesions show epithelial-lined structures with lymphocytes and erythrocytes. Macrophages containing hemosiderin are characteristic of haemangioma and are not typically seen in malformations.^[4]

Lymphopenia can be a related feature of these malformations. Gorham Syndrome, also known as vanishing bone syndrome, is a type of lymphatic malformation affecting the bones and surrounding tissues. This serious condition leads to considerable bone loss.^[4]

Lymphatico-venous malformation consists of both lymphatic and venous channels. These malformations are most frequently found in the head and neck, followed by the axilla, chest, and proximal upper extremities; they typically appear in the posterior triangles of the neck in infants.^[1] Lymphatic malformation is characterised by enlarged lymphatic vessels that arise from blockages in the lymphatic drainage system, resulting from congenital anomalies or acquired factors.^[1] Although they are not clinically present at birth, they may present at later stages of life following trauma, infection, or pregnancy. These tumours are benign; they tend to invade underlying tissues and may recur locally.^[2] Rarely, they may cause severe functional disability when present in the orbit or larynx.

Ultrasonography (USG) is a primary, cost-effective, non-ionising, and non-invasive imaging technique. It is highly sensitive for detecting neck lesions, including dermoid cysts, lipomas, plunging ranulas, and high-flow arteriovenous malformations. An ultrasonogram combined with colour Doppler imaging can be utilised to evaluate the morphology of lesions and the characteristics of blood vessels.^[4] MRI is crucial for diagnosis, as it helps characterise the type of lesion, assess its extent, evaluate tissue layer involvement, and analyse the flow pattern. This information aids in establishing a definitive diagnosis and guiding treatment decisions.^[4] The diagnosis of vascular malformation is confirmed through immunohistopathology, which reveals positive reactivity for CD31 (platelet endothelial cell adhesion molecule 1) and D2-40 (podoplanin). Notably, new markers such as Prox-1 (prospero homeobox protein 1) and VEGFR3 (vascular endothelial growth factor receptor 3) antibodies are used to identify abnormal lymphatic vessels.^[4]

Managing vascular malformations must be tailored to the individual, considering factors such as the location and extent of the lesion, flow characteristics, accessibility, and cosmetic considerations.^[4] Various authors have proposed different treatment modalities for vascular malformations, including aspiration, radiation therapy, sclerotherapy, and surgery. Laser or radiofrequency ablation can be employed for excision. Surgery is considered a more definitive treatment option for lymphatic malformations, as it helps prevent recurrence. Aspiration is done only to relieve pressure in large lesions. Radiation is not used currently.^[4]

Sclerotherapy has recently gained attention as a treatment method. This procedure involves the transcutaneous injection of a sclerosant into the vessel, which induces inflammation of the vessel wall and leads to fibrosis, ultimately resulting in the closure of the vessel lumen. Sclerotherapy is a simple and feasible alternative to surgery, used as a sole modality or in combination with surgery. Various sclerosants have been used, including alcohol, bleomycin, doxycycline, polidocanol, sodium tetradecyl sulfate, and OK32 (picibanil).^[6]

CONCLUSION

Lymphangioma in the cervical region is a benign condition rarely occurring in adults. Computed tomography (CT) or MRI is the preferred imaging study, as they help in planning the surgical approach. Currently, the most effective treatment is surgical resection, which offers a cure.