VASCULAR MALFORMATION SYNDROMES

Question 1

CLOVES (Congenital, lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal anomalies/scoliosis/seizures

1) Etiology?

2) Features?

Answer 1

1) PIK3CA

2) Limb asymmetry  upper limb in 50% of cases

Lipomatous masses on the trunk with overlying vasc malformations

Acral anomalies  Wide or triangular feet, syndactyly, macrodactyly, widened gap between 1st/2nd toe webspace

Question 2

MAFFUCCI

1) Incidence?

2) Inheritance?

3) Etiology?

4) Features?

5) Transformation?

Answer 2

1) <200 cases
M=F

2) sporadic

3) IDH1 mutation

4) enchondromatosis
spindle cell hemangiomas
venous malformations
other malignancies: Gliomas, ovary, pancreas

5) transformation to chondrosarcoma: 30%

Question 3

VON HIPPEL-LINDAU

1) Features?

2) Associations ?

Answer 3

1) hemangiomas of the retina
hemangioblastoma of cerebellum

2) cysts of liver, pancreas, kidneys
seizures, MR

Question 4

PHACE

1) Incidence?

2) Features (PHACE)?

3) Risks ?

Answer 4

1) F>M = 9:1

2) Posterior fossa malformation (Dandy-Walker)

Hemangioma: plaque-like IH in segmental or CN V distribution

Arterial cerebrovascular anomalies

Coarctation of aorta, cardiac defects

Eye + endocrine anomalies

3) MRI to r/o cerebrovascular abN → 8% stroke in infancy

Question 5

STURGE-WEBER

1) Incidence?

2) Inheritance?

3) Features?

4) Tx ?

Answer 5

1) 1 in 50,000
M=F

2) Sporadic

3) 1. CM in V1 distribution (+ V2 or V3)
2. ipsilateral leptomeningeal vascular malformation: seizures, hemiparesis/plegia, migraines, MR
3. choroidal vascular malformation of eye: glaucoma, buphthalmos, retinal detachment

soft tissue + bony overgrowth

4) Tx: laser for CM
surgical resection of tissue overgrowth

Question 6

PARKES-WEBER
CAVM or CAVF

1) Inheritance?

2) Etiology?

3) Features?

4) Tx ?

Answer 6

1) AD or sporadic

2) RASA1

3) High flow AVM + CM
Ipsilateral soft tissue + skeletal hypertrophy
Lesions present at birth  macular CM overlying enlarged limb
Lower > upper extremity

1/3 have CHF (due to high flow AVM)

4)Tx: embolization, sclerotherapy, amputation
de-bulking generally not done - fistulas permeate entire extremity

Question 7

KLIPPEL-TRENAUNAY
CLVM
low flow

1) Incidence?

2) Inheritance?

3) Etiology?

4) Features (Triad!!) ?

5) Tx ?

Answer 7

1) 1 in 100,000

2) sporadic

3) PIK3CA

4) Triad: CM, Lymphovenous, Limb Overgrowth

CM: macular in newborn, tends to darken
LM: lymphedema or lymphatic cysts, erupts through CM
VM: visible varicosities, focal VM’s, phlebectasias
marginal vein of Servelle: persistent embryonic vein, connects with deep system (↑ risk of PE)
lower extremity - 95%, upper extremity - 5%
no ↑ risk of Wilm’s tumor

Unilateral in majority of cases

5) Tx: resect persistent embryonic veins
correct LLD
sclerotherapy
surgical de-bulking (do not violate fascia)
amputation

Question 8

PROTEUS

1) Incidence?

2) Inheritance?

3) Etiology?

4) Features ?

5) Are lesion present at birth ?

Answer 8

1) rare

2) Sporadic

3) AKT1

4) Segmental overgrowth
Vascular malformations (CM,VM,LM)
Epidermal nevi
Propensity to develop tumors

5)Lesions not present at birth

Question 9

RENDU-OSLER-WEBER
hereditary hemorrhagic telangiectasia

1) Inheritance?

2) Features ?

Answer 9

1) AD
homozygous form is lethal

2) multi-system vascular dysplasia of face, tongue, lips, mucosa, conjunctiva, fingers
recurrent hemorrhage: epistaxis, hematemesis, hematuria, melena

Question 10

BLUE RUBBER BLEB
bean syndrome

1) Inheritance?

2) Features ?

3) associated problem and tx?

Answer 10

1) AD

2) multiple small venous malformations
skin + GI tract

3) chronic bleeding, requiring transfusions

Question 11

KASABACH-MERRITT

1) Features ?

2) associated risks, mortality and tx?

Answer 11

1) Kaposiform Hemangioendothelioma and Tufted Angioma
Coagulopathy  Thrombocytopenia, Low fibrinogen, Anemia

2) Risk of intra-cranial, pleural-pulmonic, GI hemorrhage
Mortality up to 30%

Sirolimus (inhibitor of PIK3CA) = 1st line tx for KHE