Vascular malformations (simple and combined) “associated with other anomalies” may be combined with non-vascular, mainly osseous, muscular, or fatty tissue growth anomalies. They often involve circumscribed overgrowth affecting a body region or whole body quadrant, e.g., a vascular malformation combined with overgrowth of a whole leg including buttocks or an arm including the shoulder. The manifestation will, therefore, always be a combination of malformation of vessels and soft tissue or bone. However, other visceral, cerebral or cardiac anomalies may also be associated in the sense of complex syndromes. These are mainly overgrowth syndromes and much less frequently undergrowth syndromes; however, overgrowth and undergrowth may be present at the same time in the same patient. Based on the ISSVA classification, the following table provides an overview of the classification of vascular malformations associated with other anomalies. The syndrome names listed here are often avoided nowadays, as they are not precisely defined in many cases. It is now preferable to use the symptom manifestation in the individual case, which can vary from patient to patient, in order to define the diagnosis according to the underlying vascular or other anomaly. Thus, a patient’s condition may not be referred to as Klippel-Trénaunay syndrome, but the more precise and meaningful term “combined capillary venolymphatic malformation with limb overgrowth” may be chosen.
|CM + VM +/- LM + overgrowth of extremities||Klippel-Trénaunay syndrome|
|CM + AVF + overgrowth of extremities||Parkes Weber syndrome|
|VM extremities + bone + limb dwarfism||Servelle-Martorell syndrome|
|Facial + leptomeningeal CM + ocular abnormality +/- overgrowth of bone or soft tissue||Sturge-Weber syndrome|
|CM extremity + congenital non-progressive limb overgrowth (mild)||CM hemihyperplasia syndrome (DCMO, diffuse capillary malformation with overgrowth)|
|VM +/- spindle cell hemangioma + multiple, progressive enchondroma||Maffucci syndrome|
|Macrocephaly CM/megalencephaly CM polymicrogyria (MCAP)||M-CAP syndrome|
|LM + VM + CM +/- AVM + osseous + tissue hyperplasia (especially fat, muscle, bone)||CLOVES syndrome|
|CM + VM and/or LM + asymmetric, very progressive somatic overgrowth||Proteus syndrome|
|AVM + VM + macrocephaly + fatty tissue hyperplasia||Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; PTEN hamartoma syndrome|
|AVM + acroangiodermatitis + asymmetric somatic overgrowth||Stewart-Bluefarb syndrome|
Complex syndromal vascular malformations represent a diagnostic and therapeutic challenge. Treatment is focused not only on the underlying vascular anomaly, but also the associated complications that can arise from organ, joint, soft tissue or muscle involvement. Patients with syndromal vascular malformations often require lifelong care and supportive physical, orthopedic and pain therapy measures. A causal treatment of the underlying anomalies does not yet exist today. Nevertheless, appropriate therapy can bring about substantial improvements, which usually allow patients to lead a normal life.