- Benign congenital lymphatic mass (LM) that is cystic in nature
- Most commonly found in the posterior triangle of the neck (75%)
- Can be found in other sites of the body, including the axilla, superior mediastinum, groin, retroperitoneum, and lower limbs
- Synonym(s): Cystic hygroma and lymphangioma are outdated terms for lymphatic malformation.
- No gender predominance noted
- Most series report no racial predominance.
- Estimated at cases: 1/6,000 to 16,000 live births
- 50–60% of cases found at birth, 90% seen by 2nd year of life
Etiology and Pathophysiology
- Results from maldevelopment or obstruction of lymphatic system
- Commonly associated with venous malformations, as both tend to develop concurrently
- Decreased outflow of lymphatics to venous system and abnormal budding of lymphatic tissue create noncommunicating lymphatic tissue and resultant formation of cystic components.
- Lesions are typically nonproliferative and rarely undergo spontaneous regression.
- Karyotypic abnormalities are often present when a cystic hygroma is found by fetal US.
- Commonly associated karyotypic abnormalities include Turner, Down, Klinefelter syndromes, and trisomies 13 and 18.
Associated with advanced maternal age or from environmental factors like maternal virus infection or alcohol abuse during pregnancy (2)
- Large lesions may be seen prenatally during 1st or 2nd trimester with fetal US or MRI.
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
- Fetal alcohol syndrome
- Fetal hydrops
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