Vascular Anomalies Center Glossary

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A-F

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A

Atrophy
The wasting away of tissue or an organ due to degeneration of cells.

B

Bannayan-Riley-Ruvalcaba syndrome (also Cowden syndrome)
Familial disorder associated with development of variety of benign/malignant tumors and fast-flow vascular anomalies. Caused by mutations in gene PTEN.

Blue rubber bleb nervous syndrome
Disorder characterized by appearance of multiple venous malformations in skin and gastrointestinal tract; often causing chronic bleeding. Possibly hereditary, but gene not yet found.

C

Cerebral cavernous malformation (CCM)
Hereditary venous-type malformations in brain; sometimes associated with cutaneous venous anomalies; caused by mutations in gene KRITI.

Computed tomography (CT)
A technology that uses x-rays linked to a computer to create cross-sectional images of the inside of the body.

"Cystic hygroma"
Old (abandoned) term for macrocystic lymphatic malformation (LM).

E

Embolization
Placement of a tiny catheter in blood vessels and the injection of particles to block blood flow. Used by interventional radiologists to control arteriovenous malformations or bleeding.

Excision
The surgical removal of tissue.

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G-L

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G

Glomuvenous malformation (GVM)
Most common familial type of VM; presents in skin in various forms; usually painful to touch; caused by mutations in gene Glomulin.

Gorham (Gorham-Stout) disease (also "disappearing bone disease")
Progressive loss of bone caused by lymphatic malformation.

H

Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu disease)
Familial disorder characterized by appearance of telangiectasia on skin and mucous membranes in association with AVMs of lungs, brain, and sometimes the gastrointestinal system. Caused by mutations in genes endoglin, activin, SMAD4.

Hypertrophy
Overgrowth, either soft tissue or skeleton.

I

Infantile hemangioma
Proper term for most common tumor of infancy; often just called "hemangioma." Unfortunately this term has been mistakenly used to describe all varieties of vascular anomalies from tumors to malformations.

Interdisciplinary
Meaning the team members meet in same location to discuss a patient or problem versus "multidisciplinary" approach meaning specialist reside in different locations and communicate by letter, email, or telephone about the problem.

K

Klippel-Trenaunay syndrome
"Slow-flow" complex vascular anomaly present at birth in a limb (sometimes the chest) and composed of abnormal capillaries, lymphatics and veins (CLVM); usually associated with overgrowth.

L

Lesion
Tissue with impaired function due to disease or injury, such as a tumor, ulcer, or abscess.

"Lymphangioma"
Old (discarded) term for microcystic lymphatic malformation (LM).

Lymphedema
Swelling of soft tissues, usually at the limbs. Congenital form called "Milroy disease" (caused by mutations in VEGFR3); later appearing form called "Meige disease."

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M-R

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M

Maffucci syndrome
Combination of benign bony tumors and forms of venous malformation. Features do not appear until early to mid-childhood. Disorder associated with high frequency of developing skeletal and non-skeletal tumors.

Magnetic Resonance Imaging (MRI)
A technology that uses a magnetic field and radio waves to produce three-dimenstional images of the inside of the body.

P

Parkes Weber syndrome
"Fast-flow" vascular anomaly: combined arteriovenous malformation present at birth in a limb, which may be large or normal in size.

Perineum
The area of the body (including skin and underlying muscle) between the anus and the urethral opening.

PHACES (association)
Letters denoting the combination of a malformation of P= posterior portion of the cranium; H= large facial hemangioma; A= arterial anomalies in neck and brain; C= cardiac anomalies; E= eye abnormalities; S= split sternum or ridge above umbiculus.

Phlebolith
Tiny stone in a venous channel that begins with thrombus (clot) that becomes fibrotic and calcifies.

Proteus syndrome
Non-hereditary disorder characterized by cutaneous thickening, lipomas, several unusual tumors, and disproportionate skeletal growth. Asymmetrical growth and soft tissue changes are not present at birth. Vascular anomalies (CM, VM, LM and combined forms) can occur.

R

Resection
The surgical removal of tissue.

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S-Z

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S

Sclerotherapy
Technique used by an interventional radiologist; injection of material to destroy endothelial lining of a vascular channel, resulting in thrombosis, collapse, and scarring.

Sturge-Weber syndrome
Capillary malformation in upper and mid-facial region in association with vascular anomalies on surface of brain and in eye (glaucoma). Not hereditary.

T

Telangiectasias
Permanent dilation (widening) of groups of superficial capillaries and venules.

V

Vesicles
Small, raised skin lesions containing clear fluid.

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