From: Cutis marmorata telangiectatica congenita: a literature review
Condition | Distinguishing clinical features |
---|---|
Physiological cutis marmorata | Symmetric blanchable and reticulate pattern on the trunk and extremities which disappear with local warming. |
Congenital livedo reticularis | Idiopathic or secondary to Down’s syndrome, Cornelia de Lange syndrome, neonatal lupus erythematosus, antiphospholipid antibody syndrome, vasculopathies or autoimmune connective tissue disorders. |
Klippel-Trenaunay syndrome [1] | Soft tissue and bone hypertrophy with port-wine stain, lymphangioma, and/or varicosities typically involving one extremity. Associated with PIK3CA mutation. |
Sturge-Weber syndrome [1] | Facial port-wine stain, vascular malformation in eyes and meninges, and calcium deposits in the brain. Many of the patients have mutations in the GNAQ gene. |
Macrocephaly-capillary malformation (formerly macrocephaly-cutis marmorata telangiectatica congenita) [1, 59] | Macrocephaly often with developmental delay. Somatic mutation in the PIK3CA gene. |
Sneddon’s syndrome [60] | Cerebrovascular ischemic events and generalised livedo racemosa. Histopathology shows occlusive arteriopathy and endothelial damage. |
Extremity hypertrophy containing arterial-venous fistula and hemangiomas. Associated with RASA1 mutations. | |
Adams-Oliver syndrome [61] | Cardiac malformations, limb defects, aplasia cutis congenita of the scalp and abnormalities of the cranium. |
Genuine diffuse phlebectasia (Bockenheimer’s disease) [62] | Progressive congenital phlebectasia, usually on a single extremity. |