Lymphatic malformation (LM), previously referred to as "lymphangioma," is a common congenital vascular malformation. The pathogenesis remains unclear, although it is generally believed that the affected endothelial cells may originate from early stages of vascular system development. LM is classified into three types: macrocystic, microcystic, and mixed. The macrocystic type consists of one or more cystic spaces with a volume ≥2 cm3, while the microcystic type consists of multiple cystic spaces with a volume <2 cm3. The mixed type includes characteristics of both. The incidence rate is approximately 1 in 4,000 to 1 in 2,000 live births, with no observed differences based on sex or ethnicity.
Clinical Manifestations
Onset of the condition commonly occurs before the age of two, with about 50% of cases being identified at birth. While it can occur in any part of the body, it most frequently involves regions with prominent lymphatic networks. The neck and axilla are the most commonly affected areas, followed by the groin, mediastinum, and retroperitoneum.
The clinical presentation of cervical lymphatic malformation varies significantly depending on the type, extent, and depth of the lesion. Some cases manifest as fluid-filled vesicles on the skin and mucosa, while others present as large cystic masses that may occupy the entire side of the neck. These masses can extend upward to the cheek and parotid region, forward past the midline of the neck, downward to the supraclavicular fossa and axilla, and even posteriorly to the shoulder region. The cysts are typically soft, elastic, multilocular, and thin-walled, containing clear fluid inside. Despite their large size, they rarely cause compressive symptoms of the pharynx, larynx, or trachea, apart from mild restriction in head and neck movement. However, secondary infections or intracystic hemorrhage can lead to rapid enlargement, accompanied by local pain and compressive symptoms involving the pharynx, larynx, or trachea.
Diagnosis
When lymphatic malformation is suspected based on the patient’s medical history and physical examination, ultrasound should typically be performed as an initial diagnostic tool. It provides information about the location, characteristics, size, and relationship of the lesion to surrounding tissues, offering guidance for surgical or sclerotherapy treatment and subsequent monitoring of prognosis. MRI can provide more reliable and detailed imaging, with the ability to distinguish lymphatic vessels from blood vessels. Biopsy may be performed when necessary to confirm the diagnosis.
Treatment
Treatment options include surgical excision, laser therapy, sclerotherapy, and pharmacological interventions. However, no single treatment modality has proven effective for all types of lymphatic malformations.