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Pediatrics: Surgery > Otolaryngology
Cystic Hygroma
Article Last Updated: Jul 18, 2008
AUTHOR AND EDITOR INFORMATION
Section 1 of 12  
Author: Jason L Acevedo, MD, Resident Physician, Department of Otolaryngology-Head and Neck Surgery, Walter Reed Army Medical Center
Jason L Acevedo is a member of the following medical societies: American Academy of Otolaryngology-Head and Neck Surgery, American College of Surgeons, and American Medical Association
Coauthor(s):
Rahul K Shah, MD, FAAP, Assistant Professor of Otolaryngology and Pediatrics, George Washington University, Children's National Medical Center; Attending Physician, Department of Otolaryngologoy, Children's National Medical Center;
Holly L Neville, MD, Assistant Professor of Clinical Surgery, Division of Pediatric Surgery, University of Miami Miller School of Medicine;
Michael D Poole, MD, PhD, Consulting Staff, Georgia Ear Institute
Editors: Orval Brown, MD, Director of Otolaryngology Clinic, Professor, Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas; Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc; John E McClay, MD, Assistant Professor, Department of Otolaryngology, Division of Pediatric Otolaryngology, Children's Medical Center, University of Texas Southwestern Medical School; Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System; Maureen Strafford, MD, Arnold P Gold Foundation Associate Professor, Departments of Anesthesiology and Pediatrics, Tufts University and Tufts-New England Medical Center
Author and Editor Disclosure
Synonyms and related keywords:
cystic hygroma, CH, cystic lymphatic lesion, macrocystic lymphatic malformation, hemangiomas, microcystic lymphangioma, cystic lymphangioma, lymphatic rests, capillary lymphangioma, cavernous lymphangioma, suprahyoid lesions, infrahyoid lesions, Turner syndrome, Down syndrome, trisomy 18, trisomy 13, Noonan syndrome, Klinefelter disease, Fryns disease, multiple pterygium disease, achondroplasia, Gorham-Stout syndrome
Background
First described by Wernher in 1843, cystic hygroma (CH) is a cystic lymphatic lesion that can affect any anatomic subsite in the human body. CH usually affects the head and neck (approximately 75%), with a left-sided predilection. Within the neck, the posterior triangle tends to be most frequently affected. Approximately 20% of CHs occur in the axilla; more infrequent subsites include the mediastinum, groin, and retroperitoneum. CH is synonymous with cystic lymphangioma, which is also known as a macrocystic lymphatic malformation and was first described in 1828 by Redenbacker.
Pathophysiology
Lymphangiomas are thought to arise from a combination of the following: a failure of lymphatics to connect to the venous system, abnormal budding of lymphatic tissue, and sequestered lymphatic rests that retain their embryonic growth potential. These lymphatic rests can penetrate adjacent structures or dissect along fascial planes and eventually become canalized. These spaces retain their secretions and develop cystic components because of the lack of a venous outflow tract. The nature of the surrounding tissue determines whether the lymphangioma is capillary, cavernous, or cystic. CHs tend to form in loose areolar tissue, whereas capillary and cavernous forms of lymphangiomas tend to form in muscle. Studies using cell proliferation markers have demonstrated that lymphangioma enlargement is related more to engorgement than to actual cell proliferation. Molecular studies suggest that vascular endothelial growth factor C (VEGF-C) and its receptors may play an important role in the development of lymphatic malformations. In addition to congential development, lymphangiomas can be acquired. They can arise from trauma (including surgery), inflammation, or obstruction of a lymphatic drainage pathway.
Frequency
International
The incidence of CH is estimated to be 1 case per 6,000-16,000 live births.
Mortality/Morbidity
Mortality has been reported to be as high as 2-6% in some series, usually secondary to pneumonia, bronchiectasis, and airway compromise. Obviously, this figure is pertinent in the larger-sized lesions. As expected, morbidity depends on the anatomic location of the CH. In general, morbidity is related to cosmetic disfigurement and impingement on other critical structures such as nerves, vessels, lymphatics, and the airway.
Race
Most series report no racial predominance, although a decreased incidence in African Americans has been described.
Sex
The sex distribution is equal.
Age
Most cystic hygromas (50-65%) are evident at birth, with 80-90% of CHs presenting by age 2 years. Some authors believe that all CHs are present at birth, although they may have not yet fully manifested at that time. CH can be visualized using abdominal ultrasonography by 10 weeks' gestation, although transvaginal ultrasonography provides superior detail. Fast-spin MRI can also be used to determine the extent of fetal CH. Elevated alpha fetoprotein levels in amniocentesis fluid has been reported in pregnancies with CH.
History
The presenting signs and symptoms of the cystic hygroma (CH) vary depending on the lesion's location.
- The microcystic form of lymphangioma tends to predominate over CH in the oral cavity and oropharynx. Microcystic lymphangiomas commonly appear as clusters of clear, black, or red vesicles on the buccal mucosa or tongue.
- CHs tend to predominate below the mylohyoid muscle and can involve both the anterior and posterior triangles of the neck.
- The cysts are typically large and thick walled and have little involvement of surrounding tissue. The overlying skin can take on a bluish hue or may appear normal.
- CHs often present after a sudden increase in size secondary to infection or intralesional bleeding. Spontaneous decompression or shrinkage is uncommon.
- Rarely, children with CH display symptoms of newly onset obstructive sleep apnea syndrome (OSAS). This situation may involve children with CH or other space-occupying lesions of the supraglottis or paraglottic region. Suprahyoid lymphangiomas tend to cause more breathing difficulties than infrahyoid lesions.
- Potentially life-threatening airway compromise that manifests as noisy breathing (stridor) and cyanosis is a possible symptom of lymphangiomas.
- Feeding difficulties, as well as failure to thrive, may alert the clinician to a potential lymphangioma. This is especially true when the lesion affects structures of the upper aerodigestive tract.
Physical
- CHs are typically soft, painless, compressible (doughy) masses.
- A CH typically transilluminates.
- In children who present with CH of the neck, closely evaluate for tracheal deviation or other evidence of impending airway obstruction.
- Closely inspect the tongue, oral cavity, hypopharynx, and larynx because any involvement may lead to airway obstruction.
- Referral to an airway expert (otolaryngologist) to potentially perform a fiberoptic airway evaluation is justified in patients with a lymphatic malformation.
Causes
Karyotypic abnormalities are present in 25-70% of children with CH. CH has been noted to be more common in persons with Turner syndrome, Down syndrome, and trisomy 18 and 13, although these are not considered a cause.
In addition, several nonchromosomal disorders, including Noonan syndrome, Klinefelter syndrome, Fryns syndrome, multiple pterygium syndrome, and achondroplasia are associated with an increased incidence of CH. Intrauterine alcohol exposure has been associated with the development of lymphangiomas. Dissolution of bone caused by either lymphangiomas or hemangiomas is termed Gorham-Stout syndrome.
Teratomas and Other Germ Cell Tumors
Other Problems to be Considered
Branchial cleft cyst
Thyroglossal duct cyst
Ranula
Goiter
Soft tissue tumors
Neck abscess
Lab Studies
Studies have suggested that fluorescent in situ hybridization (FISH) can be used to evaluate for cystic hygroma (CH) in prenatal chromosomal analysis. Chromosomes 13, 18, 21, X, and Y are specifically mentioned.1
Imaging Studies
MRI, CT scanning, and ultrasonography are all helpful in delineating the nature of a cystic neck mass. CT scanning and MRI reveal ringlike margin enhancement with sharp demarcation of cystic areas. The cystic areas tend to appear circumscribed and discrete. A poorly defined isodense mass that obscures muscle and fatty planes is more consistent with a microcystic lymphatic malformation than a CH.
- MRI: MRI is the consensus study of choice. It provides the best soft tissue detail and can delineate the relationship of the lesion to underlying structures. Contrast can be used to differentiate hemangiomas from lymphangiomas. On MRI, CHs appear hyperintense on T2-weighted images and hypointense on T1-weighted images.
- CT scanning: CT scanning is faster and may be more readily available than MRI. CT scanning carries the risk of radiation exposure, and detail is lost if the CH is surrounded by tissue of similar attenuation. Contrast helps to enhance cyst wall visualization and the relationship to surrounding blood vessels. On CT scans, CHs appear isodense to cerebrospinal fluid (CSF).
- Ultrasonography: This is the least invasive study. It is very useful in demonstrating the relationship of CH to the surrounding structures. Ultrasonography has limited ability in assessing mediastinal and retropharyngeal structures. It can be used to detect CH in utero. Echographic visualization of multiple septae in fetal CH has been postulated to be a poor prognostic indicator.
- Plain radiography: With any large mass of the head and neck, airway radiography (high-kilovolt anteroposterior and lateral neck radiographs or airway fluoroscopy) can be helpful in delineating possible airway compromise. Plain radiography is a reasonable initial imaging modality in the evaluation of a neck mass with a potential airway manifestation.
- Lymphoscintigraphy: A case report highlighted the ability to visualize CH using lymphoscintigraphy.
Procedures
Several recent studies have documented the use of ultrasonography-guided endoscopic biopsy for diagnosis of GI lymphatic malformations.2
Histologic Findings
CHs are composed of large irregular sinuses with a single layer of flattened epithelial lining and fibrous adventitial coats. The thickness of the vessel wall varies, with both striated and smooth muscle components. CHs are identical to cavernous forms under a microscope; only the gross appearance of the cyst can be used to differentiate them. Although most CHs are multicystic, in approximately 10% of cases, a unilocular cyst is found. Cysts can range from 1 mm to several centimeters in size and are filled with clear-to-straw–colored fluid, which is eosinophilic and protein rich. Individual cysts may be isolated or may freely communicate. The surrounding stroma is fibrous or fatty and may contain lymphoid aggregates, smooth muscle, or other local tissues. Lymphangiomas may contain multiple subtypes (ie, capillary and cavernous) and, in these instances, are categorized based on the predominant subtype. In addition, lesions with a hemangiomatous component are considered hemangiolymphangiomas. Hemorrhage into the cyst is common and can be secondary to trauma or spontaneous bleeding. Capillary lymphangiomas contain capillary-sized lymphatic channels that involve the epidermis. Cavernous lymphangiomas infiltrate surrounding structures and are dilated lymphatic channels. CHs (cystic lymphangiomas) are cystic masses lined by a single layer of endothelium with a connective tissue stroma.
Staging
Classification has been marred by a historical lack of conformity. In 1877, the first system was proposed by Wegener. In 1982, Mulliken and Glowacki presented a cell-based classification that is currently used by many authors.3 Their system stratifies lesions into hemangiomas or vascular malformations. CHs fall into the latter category. The World Health Organization (WHO) recognizes 3 types of lymphangiomas: capillary, cavernous, and cystic. Central in a discussion of CH is the understanding that it is synonymous with macrocystic lymphatic malformation and cystic lymphangioma. Giguere et al have proposed categorization of lymphangiomas based on the size of the cystic component, as follows:4
- Macrocystic - Cystic spaces at least 2 cm
- Microcystic - Spaces less than 2 cm
- Mixed lesions
de Serres et al have proposed the following system for staging of CH of the head and neck:5
- Stage I - Unilateral infrahyoid (17% complication rate)
- Stage II - Unilateral suprahyoid (41% complication rate)
- Stage III - Unilateral and both infrahyoid and suprahyoid (67% complication rate)
- Stage IV - Bilateral suprahyoid (80% complication rate)
- Stage V - Bilateral infrahyoid and suprahyoid (100% complication rate)
Medical Care
Although some authors have reported watchful waiting of cystic hygroma (CH), it should be considered only in patients who are asymptomatic. The medical treatment of CH consists of the administration of sclerosing agents. Sclerosing agents include OK-432 (an inactive strain of group A Streptococcus pyogenes), bleomycin, pure ethanol, bleomycin, sodium tetradecyl sulfate, and doxycycline.
- OK-432: Although not currently approved by the US Food and Drug Administration (FDA), OK-432 (Picibanil) has been reported to successfully treat CH.6 The mechanism of action is proposed to be an inflammatory response to the inactive bacteria, leading to fibrosis of the hygroma. OK-432 may be a viable option for large unilocular cysts. Currently, OK-432 is available in the United States only by protocol. It does not work well for small cysts. Because the procedure for using OK-432 involves aspiration prior to injection of the sclerosant, some have hypothesized that the true effect is from the aspiration.
- Bleomycin: Bleomycin is considered a poor choice because of its toxicity (pulmonary fibrosis) because CH is a benign disease and other treatment options are available.
- Alcohol: Absolute alcohol as a sclerosing agent has been used with some success in some patients; alcohol works well in vascular malformations.
- Interferon alfa-2a: This has been used in the treatment of hemangiomas, and its use has been proposed in lymphangiomas. However, its efficacy has never been documented and it carries a serious side effect profile.
- Fibrin sealant: The use of a fibrin sealant after aspiration of CH has been reported in the literature.
An infected CH should be treated with intravenous antibiotics, and definitive surgery should be performed once the infection has resolved. Incision and drainage or aspiration results in only temporary shrinkage, and subsequent fibrosis can further complicate the resection. Radiotherapy has not been demonstrated to be effective. The preferred treatment of all CH is surgical resection. Only resection can truly offer the potential for cure.
Surgical Care
The mainstay of treatment is surgical excision. Although surgery is the criterion standard for treatment, both the operating team and the family of the patient should go forward with the knowledge that CH is a benign lesion. If acute infection occurs prior to resection, surgery should be delayed at least 3 months.
- The surgical team should attempt to completely remove the lymphangioma or to remove as much as possible, sparing all vital neurovascular structures. Complete excision has been estimated to be possible in roughly 40% of cases.
- CHs are ideally removed in one procedure because secondary excisions are complicated by fibrosis and distorted anatomical landmarks.
- Microcystic lesions are much more difficult to remove because of their intimate association with nearby tissues. Laser therapy is a recent advancement in the treatment of microcystic lesions.
- The exceptions to excision at the time of diagnosis are few and include premature infants who are small in size and those with involvement of crucial neurovascular structures that are small and difficult to identify (eg, facial nerve). If no airway obstruction is present, surgery can be delayed until the child is aged 2 years or older, especially when operating around the facial nerve in the parotid area.
- Signs of airway obstruction require surgical evaluation at the time of diagnosis. In emergency situations, aspiration with an 18-gauge or 20-gauge needle may obviate the need for an emergency tracheostomy.
- Although traditional wisdom has dictated not aspirating lymphatic malformations, a study by Burezq et al documented success with serial aspiration of CH.7 In their series, 14 patients were treated with aspiration alone (3 needed multiple aspirations), with a mean follow-up of 5.75 years. No failures were reported. This technique may hold promise for the future management of CH. Other authors contend aspiration has no role and believe that aspiration is often followed by recurrence, hemorrhage, or infection.
- Radiofrequency ablation has been advocated for use with intraoral lymphatic malformations, especially microcystic lesions.
- Magnetic resonance–controlled laser-induced interstitial thermotherapy is a novel therapy that has been proposed for treatment of lymphangiomas.
- CH can present on routine prenatal ultrasonography as a large obstructing airway mass, as can other pathologic conditions such as a teratoma or rhabdomyosarcoma. If such a mass is visible on ultrasonography, MRI should be performed to further delineate the mass. In these cases, a multispecialty team including a high-risk obstetrician, pediatric otolaryngologist, pediatric surgeon, and neonatologist should be present at the ex utero intrapartum treatment (EXIT) procedure. A planned cesarean delivery is performed, and intubation or tracheostomy is used to establish an airway. Extracorporal membrane oxygenation (ECMO) should also be available. Excision of the CH is delayed until the child is stable. Intrauterine cyst aspiration to facilitate vaginal delivery has been reported in the literature.
Consultations
Depending on the anatomical location, referral to a surgeon or surgical specialist is appropriate. In patients with CH of the head and neck, referral to an otolaryngologist is appropriate.
Diet
No special dietary requirements are necessary for patients with CH.
Activity
Patients with CH should be directed to avoid direct trauma to the area because intralesional bleeding or infection can be precipitated by trauma.
Sclerosant therapy, as described in Treatment, is the only medical therapy available to treat cystic hygroma.
Complications
- Complications include airway obstruction, hemorrhage, infection, and deformation of surrounding bony structures or teeth if left untreated.
- Complications from the surgical excision of a cystic hygroma (CH) are myriad and are related to the location and structures adjacent to the mass; these include damage to a neurovascular structure (including cranial nerves), chylous fistula, chylothorax, hemorrhage, and recurrence. Most recurrences occur within the first year but have been reported to occur as long as 10 years after excision.
Prognosis
- Unlike in hemangiomas, spontaneous resolution of CH is uncommon. Recurrence is rare when all gross disease is removed. If residual tissue is left behind, the expected recurrence rate is approximately 15%.
- In prenatal CH, diagnosis after 30 weeks' gestation is considered a positive prognosticator.
Special Concerns
- Intrapartum diagnosis of cystic hygroma presents a unique situation and is detailed above (see Surgical Care).
The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Charles S Cox, Jr, MD, to the development and writing of this article.
| Media file 1:
Reconstruction of CT in sagittal dimension. This patient was intubated because of respiratory distress caused by the large lymphatic malformation. |
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Media type: CT
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Cystic Hygroma excerpt Article Last Updated: Jul 18, 2008
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