Anomalies of the lymphatic system

Question 1

Congenital lymphedema

Answer 1

Dilation of primordial lymphatic channels, or from congenital hypoplasia of lymphatic vessels. More rarely, diffuse cystic dilation of lymphatic channels involve widespread portions of the body.

Question 2

Cystic Hygroma

Answer 2

large swellings that appear in the inferolateral part of the neck and consists of large single or multilocular, fluid filled cavities

May be present at birth, but often enlarge and become more evident during infancy–especially after infection or hemorrhage

Appear to be derived from abnormal transformation of the jugular lymph sacs that are pinched off or from lymphatic spaces that fail to establish connections with the main lymphatic channels

If diagnosed in utero in the first trimester, they are associated with chromosomal abnormalities and about 50% of cases with poor fetal outcome (e.g., hypodiploidy with Turners Syndrome–> 45 X,0)

Question 3

Milroy’s disease

Answer 3

autosomal dominantly inherited lymphatic disorder (congenital type of hereditary lymphedema) in which there is a mutation in the kinase domain of the VEGF receptor 3 (VEGFR-3).

Question 4

Lymphangiomas/Cystic hygromas

Answer 4

angiomas composed of lymphatics