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Table 4 Differential diagnoses and distinguishing clinical features

From: Cutis marmorata telangiectatica congenita: a literature review

ConditionDistinguishing clinical features
Physiological cutis marmorataSymmetric blanchable and reticulate pattern on the trunk and extremities which disappear with local warming.
Congenital livedo reticularisIdiopathic 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.
Parkes-Weber syndrome [1, 6]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.