Cystic Hygroma

The cystic hygroma is a lymphatic lesion composed of a cluster of cysts that can appear in almost any area of the body, although it usually affects the head and neck (about 75%), most often on the left side.

Cystic hygroma vs. lymphangioma

Lymphangiomas are benign malformations of the lymphatic system. The surrounding tissue determines whether the lymphangioma is capillary, cavernous, or cystic.

The cause of cystic hygromas is not known.

Is cystic hygroma inherited?

Genetic abnormalities are present in about 25% to 75% of affected children.

Is cystic hygroma a birth defect?

The majority (over 50%) are seen at birth and about 80% to 90% present by 2 years of age. The microcystic form is comprised of cysts that are less than 2 centimeters while the macrocystic form comprises cysts greater than 2 centimeters.

Cystic hygroma with Turner syndrome and Down syndrome

The disease is more common in individuals with Turner syndrome, Down syndrome, or Klinefelter syndrome.

The symptoms and signs of cystic hygroma vary with the location of the cluster of cysts. However, because many are present in the neck, they can produce symptoms that range from none to severe. Signs and symptoms of cystic hygroma are as follows:

• clusters of clear, black, or red vesicles on buccal mucosa or the tongue (microcystic form)
• large cysts with overlying bluish or normal-appearing skin (macrocystic form)
• sleep apnea, occasionally obstructive
• breathing difficulties
• feeding difficulties
• failure to thrive (especially in children who have involvement of the gastrointestinal tract)
• intra-lesional bleeding (rare)

Although some patients have visible lesions to make the diagnosis on examination, others do not.

Ultrasound and radiology for cystic hygroma diagnosis

The soft tissue lesions can be visualized with MRI scan, CT scan, ultrasound, and occasionally even with X-rays. Other studies such as airway fluoroscopy and lymphoscintigraphy (lymph node mapping by radiographic imaging) have been used. Also, endoscopic biopsy has been used for diagnosis.

Ultrasound has been used to diagnose cystic hygromas in fetuses as early as the first trimester.

Some clinicians prefer to “watch and wait” in children who have a cystic hygroma and no symptoms.

Can a cystic hygroma be removed?

If symptoms develop, there are two main treatments -- medical, using chemicals to scar or obliterate the cysts and surgical excision of the cystic tissue. Some authors consider surgical removal as the preferred treatment. Other techniques, such as radiofrequency ablation and laser induced thermotherapy, have also been used to treat the lesions. Parents should discuss treatment options that would be best for their child with their child's treatment team, usually composed of the child's pediatrician and a surgical specialist and/or otolaryngologist.

The prognosis of cystic hygromas is variable and can range from good to poor. For example, if most but not all cystic hygroma tissue is removed, there is a 15% chance of recurrence.

Can a baby survive with cystic hygroma?

Prognosis decreases when the cystic hygroma is in fetuses and in those with excessive neck thickening. Also, if the fetus also has genetic abnormalities the prognosis is poorer.