Genetic basis for vascular anomalies.
The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome.
George Washington University School of Medicine and Health Sciences, Division of Dermatology, Children's National Health System, Washington, DC, USA.
A Yasmine
AY
Kirkorian
Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA.
Anna L
AL
Grossberg
Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA. kateputtgen@jhmi.edu.
Katherine B
KB
Püttgen
D058534:Class I Phosphatidylinositol 3-Kinases; D006801:Humans; D009154:Mutation; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D013577:Syndrome; D054079:Vascular Malformations / Q000235:genetics* / Q000473:pathology
D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
Maffucci syndrome; PIK3CA-related overgrowth spectrum; PROS; Parkes-Weber syndrome; Proteus syndrome; SOLAMEN syndrome; Sturge-Weber syndrome; arteriovenous malformation; blue rubber bleb nevus syndrome; capillary malformation; capillary malformation-arteriovenous malformation; congenital hemangioma; cutaneo-mucosal venous malformation; genetic, , , ,; lymphatic malformation; phakomatosis pigmentovascularis; venous malformation; verrucous venous malformation