History
A few-months-old female baby presented with unilateral lower limb hypoplasia, a network-like telengiectasia and focal atrophic scars since birth. The vascular anomaly is exaggerated on crying and cold exposure.
Cutis Marmorata Telangiectatica Congenita (Congenital Phlebectasia, Van Lohuizen Syndrome) is characterized by the presence of a purplish, reticulated vascular network with a segmental distribution, usually involving the extremities. The mottling is pronounced and is made more distinct by crying, vigorous activity, and cold. Lesions usually improve by 2 years of age, but may remain stable. The condition occurs sporadically, and there is a female preponderance. Associated anomalies occur in more than half of patients. Common anomalies include varicosities, nevus flammeus, ulceration, macrocephaly, and hypoplasia and hypertrophy of soft tissue and bone.