Diagnosis: Cutis Marmorata Telangiectatica Congenita
Description: Congenital reticulated phlebectasia.
Morphology: Telangiectasia
Site: Limbs
Sex: F
Age: 1
Type: Clinical
Submitted By: Nameer Al-Sudany
Differential DiagnosisHistory:
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.