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Lymphangioma

Disease Details

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Description: Lymphangioma is a rare, benign tumor arising from lymphatic vessels, often appearing as fluid-filled cysts in the skin or deep tissues.
Type: Lymphangioma is a benign malformation of the lymphatic system. It typically is not associated with a specific type of genetic transmission, as most cases are sporadic. However, some may occur in association with genetic syndromes such as Noonan syndrome or Turner syndrome.
Signs And Symptoms: There are three distinct types of lymphangioma, each with their own symptoms. They are distinguished by the depth and the size of abnormal lymph vessels, but all involve a malformation of the lymphic system. Lymphangioma circumscriptum can be found on the skin's surface, and the other two types of lymphangiomas occur deeper under the skin.
Lymphangioma circumscriptum, a microcystic lymphatic malformation, resembles clusters of small blisters ranging in color from pink to dark red. They are benign and do not require medical treatment, although some patients may choose to have them surgically removed for cosmetic reasons.
Cavernous lymphangiomas are generally present at birth, but may appear later in the child's life. These bulging masses occur deep under the skin, typically on the neck, tongue and lips, and vary widely in size, ranging from as small as a centimeter in diameter to several centimeters wide. In some cases, they may affect an entire extremity such as a hand or foot. Although they are usually painless, the patient may feel mild pain when pressure is exerted on the area. They come in the colors white, pink, red, blue, purple, and black; and the pain lessens the lighter the color of the bump.
Cystic hygroma shares many commonalities with cavernous lymphangiomas, and some doctors consider them to be too similar to merit separate categories. However, cystic lymphangiomas usually have a softer consistency than cavernous lymphangiomas, and this term is typically the one that is applied to lymphangiomas that develop in fetuses. They usually appear on the neck (75%), arm pit or groin areas. They often look like swollen bulges underneath the skin.
Prognosis: The prognosis for lymphangioma circumscriptum and cavernous lymphangioma is generally excellent. This condition is associated with minor bleeding, recurrent cellulitis, and lymph fluid leakage. Two cases of lymphangiosarcoma arising from lymphangioma circumscriptum have been reported; however, in both of the patients, the preexisting lesion was exposed to extensive radiation therapy.In cystic hygroma, large cysts can cause dysphagia, respiratory problems, and serious infection if they involve the neck. Patients with cystic hygroma should receive cytogenetic analysis to determine if they have chromosomal abnormalities, and parents should receive genetic counseling because this condition can recur in subsequent pregnancies.Complications after surgical removal of cystic hygroma include damage to the structures in the neck, infection, and return of the cystic hygroma.
Onset: Lymphangioma is typically a congenital condition, meaning it is present at birth. It arises from malformations in the lymphatic system during fetal development. Some cases might become noticeable later in childhood, but the underlying anomalies are usually present from early development.
Prevalence: Lymphangioma is a rare, benign malformation of the lymphatic system. The exact prevalence is not well-documented, but it is estimated to occur in approximately 1 in 2,000 to 1 in 4,000 live births. These malformations are most commonly diagnosed in children, with around 90% of cases identified by the age of 2.
Epidemiology: Lymphangiomas are rare, accounting for 4% of all vascular tumors in children. Although lymphangioma can become evident at any age, 50% are seen at birth, and 90% of lymphangiomas are evident by 2 years of age.
Intractability: Lymphangioma, a benign tumor resulting from an abnormal collection of lymphatic vessels, is generally not considered intractable. Treatment options, including surgical removal, sclerotherapy, and other interventions, can often successfully manage or eliminate these lesions, depending on their size, location, and complexity. However, extensive or complicated cases may pose challenges and require specialized care.
Disease Severity: Lymphangioma is generally considered a benign condition, meaning it is not cancerous and typically does not spread to other parts of the body. However, its severity can vary depending on its size, location, and potential complications. Large or strategically located lymphangiomas can lead to compressive symptoms affecting nearby structures, such as the airway, leading to respiratory issues, or the gastrointestinal tract, causing functional impairments. Treatment may be required in such cases to alleviate symptoms or prevent complications.
Healthcare Professionals: Disease Ontology ID - DOID:1475
Pathophysiology: In 1976, Whimster studied the pathogenesis of lymphangioma circumscriptum, finding lymphatic cisterns in the deep subcutaneous plane are separated from the normal network of lymph vessels. They communicate with the superficial lymph vesicles through vertical, dilated lymph channels. Whimster theorized the cisterns might come from a primitive lymph sac that failed to connect with the rest of the lymphatic system during embryonic development.A thick coat of muscle fibers that cause rhythmic contractions line the sequestered primitive sacs. Rhythmic contractions increase the intramural pressure, causing dilated channels to come from the walls of the cisterns toward the skin. He suggested that the vesicles seen in lymphangioma circumscriptum are outpouchings of these dilated projecting vessels.
Lymphatic and radiographic studies support Whimsters observations. Such studies reveal that big cisterns extend deeply into the skin and beyond the clinical lesions. Lymphangiomas that are deep in the dermis show no evidence of communication with the regular lymphatics. The cause for the failure of lymph sacs to connect with the lymphatic system is not known.Microscopically, the vesicles in lymphangioma circumscriptum are greatly dilated lymph channels that cause the papillary dermis to expand. They may be associated with acanthosis and hyperkeratosis. There are many channels in the upper dermis which often extend to the subcutis (the deeper layer of the dermis, containing mostly fat and connective tissue). The deeper vessels have large calibers with thick walls which contain smooth muscle. The lumen is filled with lymphatic fluid, but often contains red blood cells, lymphocytes, macrophages, and neutrophils. The channels are lined with flat endothelial cells. The interstitium has many lymphoid cells and shows evidence of fibroplasia (the formation of fibrous tissue). Nodules (A small mass of tissue or aggregation of cells) in cavernous lymphangioma are large, irregular channels in the reticular dermis and subcutaneous tissue that are lined by a single layer of endothelial cells. Also an incomplete layer of smooth muscle also lines the walls of these channels. The stroma consists of loose connective tissue with a lot of inflammatory cells. These tumors usually penetrate muscle. Cystic hygroma is indistinguishable from cavernous lymphangiomas on histology.The typical history of Lymphangioma circumscriptum shows a small number of vesicles on the skin at birth or shortly after. In subsequent years, they tend to increase in number, and the area of skin involved continues to expand. Vesicles or other skin abnormalities may not be noticed until several years after birth. Usually, lesions are asymptomatic or do not show any evidence of a disease, but, mostly, patients may have random break outs of some bleeding and major drainage of clear fluid from ruptured vesicles.Cavernous lymphangioma first appears during infancy, when a rubbery nodule with no skin changes becomes obvious in the face, trunk, or extremity. These lesions often grow at a rapid pace, similar to that of raised hemangiomas. No family history of prior lymphangiomas is described.Cystic hygroma causes deep subcutaneous cystic swelling, usually in the axilla, base of the neck, or groin, and is typically noticed soon after birth. If the lesions are drained, they will rapidly fill back up with fluid. The lesions will grow and increase to a larger size if they are not completely removed in surgery.
Carrier Status: Lymphangioma is typically not associated with carrier status because it is not a hereditary condition. It is a benign malformation of the lymphatic system that often occurs sporadically.
Mechanism: Lymphangioma is a benign malformation of the lymphatic system characterized by an abnormal collection of lymphatic vessels. Its mechanism involves developmental anomalies occurring during embryogenesis, leading to the improper formation of lymphatic vessels.

Molecular mechanisms behind lymphangioma include mutations or dysregulation in genes involved in lymphangiogenesis, such as VEGFR-3 (Vascular Endothelial Growth Factor Receptor 3), PROX1 (Prospero Homeobox 1), and FOXC2 (Forkhead Box C2). Abnormal signaling in the VEGF-C/VEGFR-3 pathway, which is critical for the development and maintenance of the lymphatic system, is particularly implicated. Disruptions in these molecular pathways contribute to the formation of dilated and malformed lymphatic vessels seen in lymphangiomas.
Treatment: Treatment for cystic hygroma involves the removal of the abnormal tissue; however, complete removal may be impossible without removing other normal areas. Surgical removal of the tumor is the typical treatment provided, with the understanding that additional removal procedures will most likely be required as the lymphangioma grows. Most patients need at least two procedures done for the removal process to be achieved. Recurrence is possible but unlikely for those lesions able to be removed completely via excisional surgery. Radiotherapy and chemical cauteries are not as effective with the lymphangioma than they are with the hemangioma. Draining lymphangiomas of fluid provides only temporary relief, so they are removed surgically. Cystic Hygroma can be treated with OK432 (Picibanil).
The least invasive and most effective form of treatment is now performed by interventional radiologists. A sclerosing agent, such as 1% or 3% sodium tetradecyl sulfate, doxycycline, or ethanol, may be directly injected into a lymphocele. "All sclerosing agents are thought to work by ablating the endothelial cells of the disrupted lymphatics feeding into the lymphocele."Lymphangioma circumscription can be healed when treated with a flashlamp pulsed dye laser, although this can cause port-wine stains and other vascular lesions.Orbital lymphangiomas, which carry significant risks from surgical removal, can also be treated with sclerosing agents, systemic medication, or through observation.
Compassionate Use Treatment: Lymphangiomas, which are benign malformations of the lymphatic system, do not have a standardized treatment regimen due to their variable nature and rarity. However, some compassionate use and off-label or experimental treatments have been explored:

1. **Sclerotherapy**: This involves injecting a sclerosing agent (e.g., OK-432 (Picibanil), doxycycline, bleomycin) to shrink the lymphangioma. It’s an off-label use in many cases.

2. **Sirolimus (Rapamycin)**: An mTOR inhibitor already approved for other conditions, it has been investigated off-label for treating complicated vascular anomalies, including lymphangiomas.

3. **Propranolol**: Although primarily used for infantile hemangiomas, cases have reported its use in lymphangiomas with some success, warranting further investigation.

4. **Interferon alpha**: This has been used on a compassionate use basis for severe cases, though its efficacy remains under study.

5. **Laser therapy**: Pulsed dye lasers or other forms of laser treatment can be employed off-label for superficial lymphangiomas.

6. **Surgery**: Surgical removal remains a primary treatment, especially for lesions causing functional impairment or significant cosmetic concerns. It’s not experimental but can be combined with other therapies.

Patients should consult a healthcare professional to explore the most appropriate options based on the specific case characteristics.
Lifestyle Recommendations: Lymphangioma is a rare, benign tumor that primarily involves the lymphatic system and is most often present at birth or developed in early childhood. While it generally requires medical treatment or surgical intervention, certain lifestyle recommendations can help support overall well-being and potentially manage symptoms:

1. **Maintain a Healthy Diet:** A balanced diet rich in fruits, vegetables, lean proteins, and whole grains can support overall health and assist in recovery post-treatment.

2. **Stay Hydrated:** Adequate fluid intake is crucial for overall bodily functions and can aid in maintaining healthy skin and tissue.

3. **Regular Exercise:** While strenuous activity may not be advisable if it causes discomfort, light to moderate exercise can enhance circulation and overall health.

4. **Skin Care:** Gentle skin care can help prevent infections around the affected area. Avoid harsh chemicals and ensure the area remains clean and dry.

5. **Monitor for Changes:** Regularly check the affected area for any changes in size, color, or pain levels and report them to your healthcare provider.

6. **Follow Medical Advice:** Adhere to any medical or surgical guidelines provided by healthcare professionals, including postoperative care and follow-up appointments.

7. **Avoid Trauma to the Area:** Be cautious to prevent injury to the affected region, as it can become easily irritated or infected.

8. **Support Networks:** Engage with support groups or communities, both in-person and online, for emotional support and shared experiences.

Adopting these lifestyle recommendations can help manage symptoms and improve quality of life for individuals with lymphangioma.
Medication: Lymphangiomas are typically treated through surgical removal or minimally invasive procedures, as there is no specific medication for them. Management may involve sclerotherapy, where a medication is injected to shrink the lymphangioma. In some cases, corticosteroids or sirolimus may be used to reduce the size or symptoms. Treatment choice depends on the lesion's size, location, and symptoms.
Repurposable Drugs: Currently, there are no widely recognized or specific repurposable drugs for lymphangioma. Treatment primarily involves surgical removal, sclerotherapy, or laser therapy. Research is ongoing, and consulting with a healthcare provider for the latest treatment options is advisable.
Metabolites: Lymphangioma is a benign tumor that originates from the lymphatic system. It primarily affects children and manifests as a malformation of the lymphatic vessels. The specific metabolites involved in lymphangioma are not well-defined, as research on this aspect is limited. Further studies are needed to elucidate the metabolic pathways and potential biomarkers involved in this condition.
Nutraceuticals: Lymphangioma is a benign tumor of the lymphatic vessels, typically presenting in childhood. There is limited scientific evidence directly supporting the use of nutraceuticals for the treatment of lymphangioma. Standard treatment options usually include surgical removal, sclerotherapy, or laser therapy.

Research in nanotechnology for lymphangioma is still in its early stages, but there is some interest in using nanoparticles for more targeted drug delivery and imaging. These approaches aim to maximize the therapeutic effects while minimizing side effects, although they are not yet standard treatments.
Peptides: Lymphangiomas are benign malformations of the lymphatic system that result in cystic growths. They typically occur in children and are often found in the neck and axillary region. The potential use of peptides and nanoparticles in treating lymphangiomas is an area of ongoing research. Peptides may be employed for targeted therapy to modulate the growth of lymphatic vessels or inhibit cyst formation. Nanoparticles can be used to deliver drugs directly to the affected site, enhancing treatment efficacy and reducing side effects. However, clinical applications of these technologies are still under investigation.