para>When diagnosed prenatally, overall prognosis is poor. More specifically, the prenatal finding of septated cystic hygroma carries a worse prognosis due to a progression to nonimmune hydrops. Diagnosis following birth is more associated with a better prognosis.
COMMONLY ASSOCIATED CONDITIONS
- Turner syndrome
- Down syndrome
- Klinefelter syndrome
- Trisomy 13
- Trisomy 18
- Cardiac abnormalities
- Noonan syndrome
- Multiple pterygium syndrome
- Achondroplasia
DIAGNOSIS
HISTORY
- Dependent on the anatomic subsite, 75% occur in posterior triangle of the neck.
- Patients may present with new-onset obstructive sleep apnea or other signs of potentially life-threatening airway obstruction, such as stridor.
- Report of rapid increase in size of mass may be secondary to infection or hemorrhage.
- Dysphagia may signify involvement of the aerodigestive tract.
PHYSICAL EXAM
- Soft, smooth, nontender, and compressible mass
- Transilluminates
- Evaluate for evidence of airway obstruction; inspect tongue, oral cavity, hypopharynx, larynx, and tracheal position.
- Macrocystic lesions typically >2 cm
- Staging of head and neck lymphatic malformations
- I: unilateral infrahyoid
- II: unilateral suprahyoid
- III: unilateral infrahyoid and suprahyoid
- IV: bilateral infrahyoid
- V: bilateral infrahyoid and suprahyoid
DIFFERENTIAL DIAGNOSIS
- Branchial cleft cysts
- Thyroglossal duct cysts
- Cystic teratomas
- Neck abscesses
- Cervical lymphadenopathy
- Other primary neoplastic processes
DIAGNOSTIC TESTS & INTERPRETATION
- MRI provides the best soft tissue detail, helps to delineate surrounding structures, and limits radiation exposure. Hyperintense on T2-weighted images, hypointense on T1-weighted images.
- CT scan may be more accessible and is faster than MRI but carries the risk of radiation exposure. Contrast may be helpful to visualize cyst walls and surrounding vasculature.
- US is minimally invasive and can be used for in utero detection.
- Radiography demonstrates well-demarcated, fluid-filled cystic cavities with surrounding connective tissue (a poorly defined mass may be more consistent with a microcystic LM).
Follow-Up Tests & Special Considerations
Consider impact of radiation in pediatric populations when comparing risks and benefits of different imaging modalities.
TREATMENT
Thorough initial assessment of lymphatic malformations is important to determine degree of functional impairment and disfigurement and to stage lesions.
ALERT
Referral to an otolaryngologist is recommended for possible fiberoptic airway evaluation.
Consider urgent consultation if evidence of airway obstruction or rapid increase in size of mass.
Tracheotomy may be required for a difficult airway.
Airway obstruction is more commonly seen in the oral cavity and oropharynx rather than the glottis (3)[B].
Life-threatening impairment requires emergent treatment, whereas in cases with minimal to no functional deficit, treatment can be delayed beyond infancy and may consist of a combination of observation, surgery, and sclerotherapy.
GENERAL MEASURES
- Monitor for possible infection and treat with appropriate antibiotic therapy.
- In a retrospective review of 24 newborn patients with giant neck masses, ex-utero intrapartum treatment (EXIT) procedure was shown to safely deliver 11 of 12 children with suspected tracheal obstruction (4)[B].
ISSUES FOR REFERRAL
Consider urgent otolaryngology consultation if evidence of airway obstruction or rapid increase in size.
SURGERY/OTHER PROCEDURES
- Lymphatic malformations can be treated successfully either with surgery or sclerotherapy (5)[A].
- Surgical excision
- Elective surgical excision has been the traditional treatment for many microcystic LMs and selected macrocystic LMs.
- Complete removal of cystic mass is ideal, but subtotal or partial removal is often adequate.
- Laser therapy and radiofrequency ablation are newer techniques being used for microcystic lymphatic malformations and intraoral lesions.
- Vacuum-assisted closure (VAC) may complement surgical resection
- Intralesional sclerotherapy
- Increasing support for use of sclerotherapy in selected macrocystic lymphatic malformations is in part due to the following:
- Invasiveness of surgery
- Proximity to vital structures
- Relatively high recurrence rates following surgery (6)[C]
- Unilocular and macrocystic lesions can be treated with sclerotherapy using a variety of agents including Picibanil/OK-432 (experimental compound not yet approved by the FDA), bleomycin, doxycycline, acetic acid, alcohol, and hypertonic saline.
- No consensus yet on type of sclerosant. There are a variety of mechanisms of action, success rates, and side-effect profiles.
- More studies are still needed to better define the role of sclerotherapy in the management of LMs. Response rates have been significantly better with macrocystic LMs than microcystic or mixed LMs.
- Partial responders to sclerotherapy who later underwent surgical treatment were found to have thickened fibrotic capsule, helping with demarcation of cyst.
- Most sclerosants are associated with posttreatment edema and care must be taken in sensitive areas, such as near the orbit and airway.
ONGOING CARE
FOLLOW-UP RECOMMENDATIONS
- Routine follow-up with surgical team
- Encourage regular dental health maintenance, especially for intraoral lesions.
- Avoid trauma to the area directly surrounding lymphatic malformations.
PROGNOSIS
- Cystic hygromas do not typically spontaneously regress.
- Majority of recurrences are within 1 year of resection.
- Sclerotherapy may require multiple injections over a short- or long-term follow-up.
COMPLICATIONS
- Airway obstruction, dysphagia, hemorrhage, infection, and skeletal and soft tissue malformation
- Complications from surgery include the following:
- Recurrence
- Damage to surrounding neurovascular structures
- Hemorrhage
- Lymphatic leak
- Chylous fistula
- Complications from sclerotherapy vary based on sclerosant, but include
- Shocklike symptoms (OK-432)
- Risk of interstitial pneumonia and pulmonary fibrosis (bleomycin)
- Tooth discoloration (doxycycline)
- Electrolyte abnormalities (doxycycline and acetic acid)
- Vision loss
REFERENCES
11 Grande M, Jansen FA, Blumenfeld YJ, et al. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;46(6):650-658. doi:10.1002/uog.14880.22 Bianchi DW, Prosen T, Platt LD, et al. Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma. Obstet Gynecol. 2013;121(5):1057-1062.33 Blumenfeld Z, Khatib N, Zimmer EZ, et al. Fetal demise in the early second trimester: sonographic findings. J Clin Ultrasound. 2015;43(2):109-112.44 Lazar DA, Olutoye OO, Moise KJJr, et al. Ex-utero intrapartum treatment procedure for giant neck masses-fetal and maternal outcomes. J Pediatr Surg. 2011;46(5):817-822.55 Adams MT, Saltzman B, Perkins JA. Head and neck lymphatic malformation treatment: a systematic review. Otolaryngol Head Neck Surg. 2012;147(4):627-639.66 Renton JP, Smith RJH. Current treatment paradigms in the management of lymphatic malformations. Laryngoscope. 2011;121(1):56-59.
ADDITIONAL READING
- Bajaj Y, Hewitt R, Ifeacho S, et al. Surgical excision as primary treatment modality for extensive cervicofacial lymphatic malformations in children. Int J Pediatr Otorhinolaryngol. 2011;75(5):673-677.
- Balakrishnan K, Menezes MD, Chen BS, et al. Primary surgery vs primary sclerotherapy for head and neck lymphatic malformations. JAMA Otolaryngol Head Neck Surg. 2014;140(1):41-45.
- Forrester MB, Merz RD. Descriptive epidemiology of cystic hygroma: Hawaii, 1986 to 1999. South Med J. 2004;97(7):631-636.
- Gedikbasi A, Gul A, Sargin A, et al. Cystic hygroma and lymphangioma: associated findings, perinatal outcome and prognostic factors in live-born infants. Arch Gynecol Obstet. 2007;276(5):491-498.
- Gedikbasi A, Oztarhan K, Aslan G, et al. Multidisciplinary approach in cystic hygroma: prenatal diagnosis, outcome, and postnatal follow up. Pediatr Int. 2009;51(5):670-677.
- Katz MS, Finck CM, Schwartz MZ, et al. Vacuum-assisted closure in the treatment of extensive lymphangiomas in children. J Pediatr Surg. 2012;47(2):367-370.
- O TM, Rickert SM, Diallo AM, et al. Lymphatic malformations of the airway. Otolaryngol Head Neck Surg. 2013;149(1):156-160.
- Perkins JA, Manning SC, Tempero RM, et al. Lymphatic malformations: review of current treatment. Otolaryngol Head Neck Surg. 2010;142(6):795-803.
- Wetmore RF, Potsic WP. Differential diagnosis of neck masses. In: Flint PW, Haughey BH, Lund VJ, et al, eds. Cummings Otolaryngology: Head and Neck Surgery. Vol 3. 5th ed. Philadelphia, PA: Mosby Elsevier; 2010:2812-2821.
CODES
ICD10
D18.1 Lymphangioma, any site
ICD9
228.1 Lymphangioma, any site
SNOMED
Cystic hygroma
CLINICAL PEARLS
- A cystic hygroma is a soft, smooth, nontender, and compressible mass that transilluminates; most commonly, it is found in the posterior triangle of the neck.
- Lymphatic malformations noted at birth or early infancy should raise suspicion for associated congenital or karyotypic abnormalities.
- Rapid increase in the size of the mass is likely secondary to infection or hemorrhage. Monitor patients closely for airway obstruction.
- There is increasing support for use of sclerotherapy for selected macrocystic LMs, with surgical treatment still used as the primary treatment modality in many cases.
- Sclerotherapy and surgery have been shown to be equally safe and effective in treating cystic hygromas.