Lymphatic Malformation

Definition

Lymphatic malformation is the rare non-malignant growths with sponge-like collection of some clear fluid-filled channels or spaces that are thought to be an outcome of an abnormal development involving the lymphatic system. These malformations that occur are mostly visible at the time of birth or when the child reaches 2 years old. This problem may affect any body area, except the brain; the most common affected sites are the head and the neck regions.

Lymphatic malformation which is evident at the period of birth are considered congenital and characterized by spongy, soft type of non-tender masses. Its clinical manifestations and severity depends upon the size of the mass in relation to its specific location, in which some can be turn out to be massive.

The lymphatic system plays a vital role in the body being a part of the immune system; it has a protective mechanism that fights against infections and other presenting disease conditions. As lymphatic malformation arise anytime regardless of its size, it can end up with some degree of functional impairment of some nearby organs or structures, and there will be some disfigurement which can be clearly seen in the affected site.

Types of Lymphatic Malformation

Vascular malformations generally refer to some specific types of congenital vascular defects which might involve only the veins, only the lymph vessels, it can be both veins and lymph vessels, or it can also be both arteries and veins.

Venous malformation if it involves only the veins

Lymphatic malformation if it involves only the lymph vessels, which is divided into 2 types, either macrocystic or microcystic in nature

• Macrocystic malformations pertain to large clear masses which are soft and smooth, arising under a normal skin or bluish skin
• Microcystic malformations are the small lesions which appear to be raised and containing the clear fluid type

Venolymphatic malformations if it involves both the veins and the lymph vessels

Arteriovenous malformations if the arteries are directly connected to the veins, without any capillaries in between them

Symptoms of Lymphatic Malformation

The clinical symptoms of lymphatic malformations develop as a result of an obstruction or some compression of nearby structures with the affected area. It can be localized in one area of the body, or it may diffuse to other parts of the body.

Symptoms of macrocystic malformation:

• Presence of single or multiple-fluid filled pockets or cysts mostly found in the nape of the neck
• Soft, large translucent masses in the neck or chest
• Bluish tinge discoloration of the overlying skin
• It can appear on the armpits, groin, rear part of the abdominal cavity, in the hip or tailbone region, or in the chest wall
• It can be extremely large which may possibly obstruct the airway at the time of delivery

Symptoms of microcystic malformation:

• Appear as small raised sacs or vesicles found on the skin which bear some clear fluid or the bloody fluid
• Slowly grows , taking the growth proportion of a child in the growing up period
• It can cause the enlargement of bones and some surrounding soft tissues due to its swelling and thickening
• They can be located on the mucous membrane or to any area of the skin

Causes

The specific cause of lymphatic malformations is yet unknown. Studies have shown that it can arise as a result of some developmental abnormalities involving the vascular system during the period of embryonic growth. Its occurrence has no relation with any genetic risk factors, immunological risk factors or with any environmental factors.

Lymphatic malformations in the uteru are associated with the following conditions:

• Down syndrome
• Turner syndrome
• Noonan syndrome

Diagnosis

The diagnosis of lymphatic malformations can be done through a prenatal ultrasound before the date of delivery.

Advanced imaging techniques that help evaluate the extent of lymphatic malformations are:

• Magnetic resonance imaging
• Computed tomography scanning
• Ultrasound

Treatment

Therapeutic procedures and interventions may vary among patients, depending on the type of lymphatic malformation, its location and the severity of the problem.

Main therapeutic options are:

• Percutaneous drainage where an incision is made to drain the fluid
• Surgery to remove a localized mass
• Sclerotherapy to shrink a mass
• Laser therapy for a problem involving the mucous membranes and he skin
• Radiofrequency ablation for mucosal or for those with superficial type of lymphatic malformation

Pictures

Before and after 1 

Image 2 – Before and after 2

References:

http://emedicine.medscape.com/article/1296163-overview#a8

Lymphatic Malformations management – http://www.cincinnatichildrens.org/health/l/lymphatic/

Perkins JA, Manning SC, Tempero RM, Cunningham MJ, Edmonds JL, Jr., Hoffer FA, Egbert MA (2010). Lymphatic malformations: current cellular and clinical investigations. Otolaryngol Head Neck Surg. 142(6):789-794.

Gangi A, Guth S, Guermazi A, Eds (2009). Imaging in Percutaneous Musculoskeletal Interventions. Springer, Germany. 378-379.

Ernemann U, Kramer U, Miller S, Bisdas S, Rebmann H, Breuninger H, et al (2010 May 11). Current concepts in the classification, diagnosis and treatment of vascular anomalies. Eur J Radiol.