The lymphatic system helps to eliminate toxins from organs and the body in general. It contributes to the circulation of nutrients within the fatty tissues and allows the transport of white blood cells. It is therefore a major element of the immune system and the scarring process. It is made off a network of lymphatic vessels that originate on every tissue – with the exception of the brain – and rejoin at the lymphatic ganglion. It carries the lymph (from latin lympha, meaning water) which is charged with a part of waste originated from cellular activity. The fluid is cleaned at the ganglions and circulates again through the venous circuit. When a lymphatic malformation is present, the transport of the liquid is slowed. The lymphatic vessels grow in consequence, resulting in a volume increase (edema). The lymphatic malformations, also called cyst lymphagiomes are abnormal lymphatic cysts of variable size.
What is the cause of Lymphatic Malformations?
The lymphatic malformations are congenital in nature. During embryogenesis, an anomaly appears on the formation of the lymphatic bags or the development of the early vessels. Research to find the relevant genes continues. Some of these studies have already allowed to identify certain factors that contribute to the proliferation and abnormal character of the lymphatic vessels.
When do they appear?
They appear during the formation of the lymphatic system, that is during the fitfh of sixth week of pregnancy. They begin to show symthoms during early childhood, but sometimes are even visible in uterus.
How can they be recognized?
Lymphatic malformations are divided in two main categories. Those called microcystic are formed of small cysts, sized less than 2 cm3. They are usually present on the skin or on the mucous membranes. Their limit isn’t well defined, and they are often surmounted by translucent or blackish vessels. They are most often present at the level of the face, neck or close to the members (shoulders, armpits …). Generally, their symptoms are mostly aesthetic. Nevertheless, they can also cause complications if they suffer inflammatory episodes.
Those called macrocystic are the more common ones (90% of the cases). The cysts are then large in size, hard and well defined. These macrocysts are often times diverse, and sometimes intercommunicate between them. The skin presents a normal appearance, without overgrowing or being warmer. This second type of lymphatic malformation evolves by outbreaks, often after a recurring infection or trauma.
In many cases, both types are associated, specially when the face is affected. These vascular anomalies can be present in all parts of the body: lips, cheeks, ears, tongue, legs, fingers, etc.
Can they be prevented?
Unfortunately no. Only the possible complications can be diminished. No matter where they are found, lymphatic malformations tend to grow whenever there is a viral or bacterial infection. It is recommended to adopt very strict hygienic rules.
What are the possible complications?
If there are microkystes, common complications include infections and bleedings following inflammation. The larger cysts may also suffer hemorragies: the area swells, and becomes very red, hot and painful. The large cystic lymphatic malformations can originate hypertrophy of the tissue, including the bone. If they are located in the mouth, larynx or chest may have an impact on vital functions, including deformations of the jaw inducing articulation disorders, dental dysphagia (trouble to the passage of food), respiratory problems, cardiac or pulmonary complications. If the malformation is close to the eyes they may also endanger the vision.
How can they be diagnosed?
Sometimes, medical history and a clinic examination are sufficient to make a diagnosis. Lymphatic malformations may be confused with venous anomalies, therefore it is sometimes required to do further exams, including echographies, IRM or a scanner. Before birth, they can often be detected during ultrasound follow up during pregnancy.
What are the possible treatments?
Any infection of a cyst is usually preceded by inflammation. Prescription of anti-inflammatory drugs or even antibiotics, be it as a prevention or for healing, will enable to control these events.
The macrocystic lymphangiomas are essentially treated by sclerotherapy, their surgical resection is more risky. When the cysts are large and limited in number, one can indeed puncture under anesthesia (local or general) and then apply sclerosis with the objective of avoiding recurrence. Sclerotherapy is performed by an interventional radiologist.
The macrocystic lymphagiomas must be considered for conservative treatments whenever possible. If a treatment reveals indispensable, the surgical approach is usually preferred.
Gorham disease, also called ghost bones syndrome, is a rare type of lymphatic malformation associated with capillary malformations that lead to progressive and significant bone destruction. One example is the Haferkamp Syndrome.
Milroy disease is of congenital origin and affects mostly the members. It is characterized by edema due to the obstruction of the lymphatic vessels. In infants, the skin may appear pink, but this coloration is not due to any PWS. The lymph nodes in these individuals are suffering from fibrosis. So far, two genes have been identified at the origin of this pathology.
The circunscriptum Lymphangioma is a condition strictly cutaneous and subcutaneous, consisting of an accumulation of small lymphatic cysts. The affected area is often larger that it seems.
The Angiokeratoma is often a wheal of the skin from red to red-blue whose surface is more or less keratosic. These are either isolated, or multiple. There are three major types of angiokeratomas, the list below not being exhaustive:
We distinguish forms that do not affect internal organs: this is the Mibelli angiokeratoma that affects more girls of 10 to 15 year old, the Fordyce scrotum angiokeratoma and the angiokeratoma of Fabry. This last one is often isolated, but sometimes can be associated to a Syndrome de Klippel-Trenauney or a Cobb Syndrome. These lesions often bleeding spontaneously or because of a scratch, may require treatment: electrocoagulation, cryotherapy, laser treatment, or even resection.
When diffuse, Fabry's angiokeratoma (type 1) is the result of a disorder of lipid metabolism. It is a serious, hereditary disease that manifests itself as a rash of reddish-violet, indelible spots and papules, most often on the abdomen, between the navel and the knees. Associated with the rash are significant visceral (cardiac and renal) lesions.