Vascular Malformations Flashcards

nevus
Terms Definitions
Most common tumor of infancy?
Infantile Hemangioma

GLUT 1+
What percentage of patients with PWS in V1 distribution will have Sturge-Weber?
10-15%

Risk is increased if V1,2,3 are involved or if there is bilateral involvement
Midline Port Wine Stain is associated with what?
Beckwith-Weidemam

p57 (KIP2) gene
Macroglossia, Linear Earlobe creases, Omphalocele, Wilm's Tumor
Asymetric gigantism, slow flow vascular anomalies and cerebriform palms and soles are found in what?
Proteus syndrome

PTEN gene mutation
Name the following triad:
Cutis Marmorata Telangiectasia
Distal Transverse Limb defects
Aplasia cutis congenita
Adams-Oliver Syndrome
Phakomatosis pigmentovascularis type associated with multiple granular cell tumors?
type III

capillary malformation, nevus spilus and nevus anemicus
IFN gamma possible treatment side effect?
Spastic diplegia
HHT I
endoglin gene, AD
increased incidence of pulmoary AV fistulas
HHT II
ALK1 gene
-increased risk of hepatic AVM's
Inheritance of Ataxia Telangiectasia?
AR
Fabry's disease is inherited how? gene defect? accumulation of what?
XLR, alpha-glactosidase A gene defect

-accumulation of globotriaosyl ceramide
(ceramide trihexose)
-maltese cross on urine
Defect in Familial cutaneous and mucosal venous malformation?
AD, TEK gene "gain of function:" mutation

activation of tyrosine kinase receptor TIE2/TEK

-No intestinal VM's as in Bean syndrome
Rare, sporadic disease with a dedect in PTH/PTHrP with venous malformations on upper extremity?
Mafucci Syndrome
Has spindle cell hemangioendothelioma with venous malformations on histo?
Mafucci
Hereditary lymphedema or Milroy's disease has a mutation in what gene?
FLT4 gene
Meige lymphedema has a defect in what gene?
FOXC2 gene
"Frog spawn appearance"
Microcystic lymphangiomas
Macrocystic lymphatic malformations are associated with what syndromes?
Down's, Turners, and Noonan's
Most common location for AVM's?
Cephalic
AVM with centrofacial, retinal and brain involvement?
Bonnet-Dechaune-Blanc (Wyburn-Masson's)
Medications associated with livedo reticularis?
Amantadine
Norepinephrine
Interferon
Sneddon's syndrome?
Widespread livedo reticularis with
multiple CNS infarcts
HTN
Systemic coagulopathy
20% with antiphospholipid antibodies
Infections associated with livedo reticularis?
HCV (vasculitis, PAN)
Mycoplasma (cold agglutins)
Syphilis
Familial erythromelalgia gene?
SCN9A gene,
voltage gated sodium channel
M/C location for nevus anemicus?
Upper trunk
POEMS syndrome?
Polyneuropathy
Organomegaly
Endocrinopathy
M-protein (MGUS, not multiple myeloma)
Skin lesions

15% have castleman's
Reactive and not neoplastic
Associated with cherry angiomas and glomeruloid hemangiomas
Grouped nodules around ears, scalp in middle aged male?
AHLE, Angiolmphoid Hyperplasia with eosinophils
(aka epitheliod hemangioma)

Hobnail cells on path
Young asian male with subcutaneous nodules on neck and painless LAD?
Kimuras
Meds associated with pyogenic granuloma?
Retinoids
Indinavir
EGFR inhibitors
Targetoid Hemosiderotic Hemangioma?
Hobnail hemangioma
Cannonball lobules in capillaries on path, located on neck, trunk, shoulder and associated with Kasabach-Merrit syndrome?
Tufted Hemangioma
Rare vascular tumor most commonly at age < 2 yo, associated with Kasabach Merrit and VEGF3+?
Kaposiform Hemangioendothelioma
Papillar intralymphatic angioendothelioma is aka?
Dabska's tumor
Antigen of HHV-8 associated with Kaposi's sarcoma?
LNA-1
Latency associated nuclear antigen-1
USUALLY PRESENT AT BIRTH: vASCULAR MALFORMATION OR INFANTILE HEMANGIOMA?
INFANTILE HEMANGIOMA
Glut-1 positive, infantile hemangioma or vascular malformation?
Infantile hemangioma

Seen in mothers with post chrorionic villus sampling
Most common complication of Hemangiomas?
Ulceration
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