Alterations in the lymphatic system can result in significant clinical morbidity, fortunately lymphatic malformations are rare. Congenital lymphedema also know as Milroy disease can arise as primary lymphedema without associated anomalies of other organ systems.
Lymphedema in Milroy disease occurs due to underdeveloped lymphatics. Turner syndrome is an inherited condition in which girls are missing an X chromosome. These patients have short stature and lack of sexual development at puberty. Eighty percent of Turner patients present with lymphedema of the hands and feet in the newborn period.
Lymphatic malformations are classified as slow-flow lesions that can be divided into macrocystic (large sacs) and microcystic (small sacs) or combined.
Large head and neck macrocystic lymphatic malformations are referred to as cystic hygromas. These lymphatic malformations are extremely difficult to manage. These large malformations are subject to inflammation and infection and can expand rapidly, causing airway compromise. Patients can require tracheostomy.
Microcystic malformations look like frog spawn forming small skin-colored fluid filled pseudovesicles. Some of the papules are red-black due to red blood cells mixed in with the lymphatic fluid. Typically, these malformations are not associated with significant morbidity. Most microcystic malformations are larger than expected on their surface appearance. Like macrocystic malformations, these lesions can become inflamed and infected. It is common for lesions to recur after surgical excision.