B-104 Vascular Malformations - Complete

Front 1

How are Vascular anomalies divided?

Back 1

Vascular Malformations and Vascular Tumors.

Vascular Malformations include:
Slow Flow (Capillary malformations**MC**, venous malformations, lymphatic malformations)
Fast Flow: AV Malformations

Vacular tumors include Infantile hemangioma

Vascular Tumors

Front 2

How are Vascular malformations different than vascular tumors WRT Gender prevalence, Natural History, Pathology, Immunophenotype, Hematology

Back 2

Vascular malformations: no gender prevalence, persistent and lifelong, no increase in cell turnover, GLUT-1 negative, LIC/DIC risk -- Tx with LMWH

Vascular Tumors:
F>M 3:1, postnatal proliferation, slow involution over years, increase in cellular turnover (+ markers of proliferation), GLUT-1 positive, KMS not linked to hemangiomas

Front 3

Name the some Capillary Malformations?

Back 3

Port wine stains
Telangiectasias
Nevus flammeus

Front 4

What two syndromes have capillary malformations

Back 4

HHT
Sturge-Weber

Front 5

Occult spinal dysraphisms must be ruled out in what setting?

Back 5

midline PWS

Front 6

Name the types and assoc of Phakomatosis Pigmentovascularis?

Back 6

Type I: CM + epidermal nevus
Type II: CM + Mongolian spots + nevus anemicus
MC type (85%)
Type III: CM + nevus spilus + nevus anemicus
Assoc. w/ multiple granular cell tumors
Type IV: CM + Mongolian spots + nevus spilus + nevus anemicus
Type V: CM + CMTC + Mongolian spots

Subtype a = only skin anomalies
Subtype b = skin + systemic abnormalities (intracranial/visceral vascular anomalies, ocular abnormalities, choroidal melanoma, hemihypertrophy)

Front 7

What does "Subtype a" designate in Phakomatosis Pigmentovascularis?

Back 7

Only skin anomalies are seen

Front 8

What does "Subtype b" designate in Phakomatosis Pigmentovascularis?

Back 8

Subtype b = skin + systemic abnormalities (intracranial/visceral vascular anomalies, ocular abnormalities, choroidal melanoma, hemihypertrophy)

Front 9

Name the Phakomatosis Pigmentovascularis that has: CM + epidermal nevus

Back 9

Type I

Front 10

Name the Phakomatosis Pigmentovascularis that has:
CM + Mongolian spots + nevus anemicus

Back 10

Type II -- MC form -- 85%

Front 11

Name the Phakomatosis Pigmentovascularis that has:
CM + nevus spilus + nevus anemicus
Assoc w/ multiple granular cell tumors

Back 11

Type III

Front 12

Name the Phakomatosis Pigmentovascularis that has:
CM + Mongolian spots + nevus spilus + nevus anemicus

Back 12

Type IV

Front 13

Name the Phakomatosis Pigmentovascularis that has:
CM + CMTC + Mongolian spots

Back 13

Type V

Front 14

Name the most common form of Phakomatosis Pigmentovascularis

Back 14

Type II

Front 15

Name the Phakomatosis Pigmentovascularis that has:
Assoc w/ multiple granular cell tumors

Back 15

Type III

Front 16

What are the major findings in Sturge Weber syndrome?

Back 16

Facial PWS (V1 -- forehead, upper eyelid)
Ipsilateral ocular involvement (Buphthlamos (congenital glaucoma)

Ipsilateral leptomeningeal changes:
CVM in pia mater
MC in occipital region
Seizures

Front 17

What is Buphthalmos?

Back 17

Congenital glaucoma -- seen in Sturge Weber

Front 18

CVMs in the pia mater seen in what dz?

Back 18

Sturge Weber syndrome

Front 19

Developmental delay
Contralateral hemiplegia, hemiparesis
Migraines
Attention deficit

Neurologic findings that are sometimes seen in what?

Back 19

Sturge Weber Syndrome

Front 20

"Tram-track" calcifications, Cerebral atrophy, convoluted calcifications in what d/o?

Back 20

Sturge-Weber syndrome (Leptomeningeal CVM)

Front 21

What % of infants with V1 have PWS?

Back 21

10-15%

Front 22

What types of PWSs have increased risk of Sturge-Weber?

Back 22

If V1, 2, and 3 are involved
If Bilateral Involvement is seen

Front 23

Name the dz w/ Classic triad:
CM
Venous/lymphatic malformation
Limb hypertrophy

Back 23

Klippel-Trenaunay Syndrome

Front 24

What is the classic triad seen in Klippel-Trenaunay syndrome?

Back 24

Classic triad:
CM
Venous/lymphatic malformation
Limb hypertrophy

Front 25

Name the syndrome:
Overgrowth of affected limb
CAVM
Fast-flow lesion
Warm, pink flat geographic stain w/ thrill/bruit
Multiple AV connections in underlying skin & muscle
Lytic bone lesions
CHF w/ hemodynamically significant AVM
Poor prognosis after puberty

Back 25

Parkes-Weber Syndrome

Front 26

What syndrome can have the following:
Lytic bone lesions
CHF w/ hemodynamically significant AVM

Back 26

Parkes-Weber syndrome

Front 27

Prognosis for Parkes-Weber Syndrome?

Back 27

Poor prognosis after puberty

Front 28

What disorders have the following complications?
Venous thromboembolism in up to 22% (check D-dimers)
Coagulopathy
Pulmonary embolism
Stasis dermatitis
Leg ulcers
Bleeding

Back 28

Klippel-Trenaunay & Parkes-Weber

Front 29

% of venous thromboembolisim in Klippel-Trenaunay & Parkes-Weber

Back 29

22%

Front 30

Name the disorder:
Asymmetrical gigantism of extremities & digits
Slow flow vascular anomalies
Capillary, venous, lymphatic
Cerebriform connective tissue nevus of palms & soles
Benign hamartomatous lesions (lipomas, epidermal nevi)

Back 30

Proteus Syndrome

Front 31

Name the disorder:
Asymmetrical gigantism of extremities & digits

Back 31

Proteus Syndrome

Front 32

Name the disorder:
Cerebriform connective tissue nevus of palms & soles

Back 32

Proteus Syndrome

Front 33

Benign hamartomatous lesions (lipomas, epidermal nevi)

Back 33

Proteus Syndrome

Front 34

Name some clinical findings of Proteus Syndrome

Back 34

Asymmetrical gigantism of extremities & digits
Slow flow vascular anomalies
Capillary, venous, lymphatic
Cerebriform connective tissue nevus of palms & soles
Benign hamartomatous lesions (lipomas, epidermal nevi)

Front 35

Mutation found in Proteus Syndrome

Back 35

PTEN gene

Front 36

Name this disorder:
Sporadic
Clusters of tiny telangiectases in annular or serpiginous pattern
Favors extremities
Young females
90% F, 80% < 20 yo
Palms, soles, mm spared

Back 36

Angioma Serpiginosum (Hutchinson Type)

Front 37

Name the disorder:
Congenital & acquired forms
Primarily females
Face, neck, chest, arms
Dermatomal distribution (trigeminal & upper cervical) or in Blaschko’s lines
+/- prominent halo of vasoconstriction
May be due to increase in estrogen receptors on bld vv in affected areas

Back 37

Unilateral Nevoid Telangiectasia

Front 38

Name the dz:
Cutaneous vascular syndrome w/ reticulated pattern that persists after re-warming

Back 38

Cutis Marmorata Telangiectatica Congenita

Front 39

This disorder can have the following findings:
+/- Atrophic depressions over joints
Up to 50% w/ associated abnormalities (in the diffuse form of the dz):
Limb hypoplasia on affected side
Ocular: glaucoma, retinal pigmentation or detachment
Neuro: macrocephaly, sz, hydrocephalus, psychomotor retardation

Back 39

Cutis Marmorata Telangiectatica Congenita (CMTC)

Front 40

In the diffuse form of CMTC, what other abnormalities can be seen (up to 50% of cases)?

Back 40

Limb hypoplasia on affected side
Ocular: glaucoma, retinal pigmentation or detachment
Neuro: macrocephaly, sz, hydrocephalus, psychomotor retardation

Front 41

What is Adams-Oliver Syndrome?

Back 41

CMTC
Distal transverse limb defects
Aplasia cutis congenita (scalp)

Front 42

Eponym for Hereditary Hemorrhagic Telangiectasia?

Back 42

Osler-Weber-Rendu

Front 43

What dz has Inheritance & Gene defects:
AD; endoglin & ALK1;
TGF-beta receptors expressed by vascular endothelium

Back 43

HHT

Front 44

Name the defect and gene in HHT?

Back 44

Inheritance & Gene defects?
AD; endoglin (ENG, HHT1) & ALK1 (HHT2)
TGF-beta receptors expressed by vascular endothelium

Front 45

What are some common clinical findings in HHT?

Back 45

Epistaxis
Mat-like & papular telangectasias on face, lips, tongue, palms, fingers
GI/GU tract hemorrhage &/or iron deficiency anemia

Front 46

Eponym for Ataxia Telangiectasia

Back 46

Louis-Barr syndrome

Front 47

Inheritance and Gene Defect in Louis-Barr syndrome?

Back 47

Ataxia telangiectasia:
ATM (AR)

Front 48

Initial presenting symptom in Louis-Barr syndrome?

Back 48

Ataxia
(aka Ataxia telangiectasia)

Front 49

In Ataxia Telangiectasia, where do the telangiectasias normall appear?

Back 49

usu appear after age 4-5, most commonly on bulbar conjunctiva (also on face and ears)

Front 50

Name the disease:
Chromosomal instability (t 7;14), growth retardation, immunodeficiency, pulmonary infections, sensitivity to ionizing radiation
High risk for lymphomas, leukemia, breast cancer
Deficiency of IgA & IgG w/ sinus/bronchial infxns
Children: ↑ levels of CEA & alpha-fetoprotein
Heterozygous carriers: ↑ risk of breast cancer

Back 50

Ataxia Telangiectasia

Front 51

Name the types of angiokeratomas

Back 51

Solitary papular angiokeratoma
-MC on LE in young adults; likely trauma-induced
-May be mistaken for melanoma

Angiokeratoma of scrotum/vulva (Fordyce spots)

Angiokeratoma circumscriptum
Clusters form a plaque, usually on extremities, present at birth

Angiokeratoma of Mibelli
Dorsal fingers/toes, elbows, knees in prepubescent children
Rare, AD genodermatosis assoc w/ cyanotic hands & feet and family h/o chilblains

Angiokeratoma corporis diffusum (bathing trunk distribution)

Front 52

These capillary malformations may be seen on the surface of CM in KTS

Back 52

Angiokeratomas

Front 53

Assoc w/ what mutation?
- Hyperkeratotic cutaneous CVM seen in subgroup of pts w/ cerebral CM (familial cerebral cavernomas)
- Cutaneous lesion represents sign of brain involvement

Back 53

Mutation in CCM1 encoding KRIT-1

Front 54

Name the disease:
Accumulation of globotriaosylceramide (ceramide trihexidose)

Back 54

Fabry's disease

Front 55

Name the disease:
alpha-galactosidase A deficiency

Back 55

Fabry's disease

Front 56

What is the best way to evaluate a Venous Malformation?

Back 56

T2 weighted MRI

Front 57

How would you treat cephalic VMs?

Back 57

Sclerotherapy
Surgical Excision

Front 58

What sclerotherapy agent could you use to treat limb VMs?

Back 58

- Pure Ethanol

- Ethibloc (zein, sodium amidotrizoate, oleum papveris, propylene glycol, ethanol)

Front 59

Name the syndromes associated with VMs

Back 59

Familial Cutaneous & Mucosal Venous Malformation (CMVM)

Blue rubber bleb nevus syndrome (BEAN syndrome)

Maffucci Syndrome

Glomangiomas & Familial Glomangiomatosis

Front 60

Name the disorder:
AD
TEK gene “gain of function” mutation

Activation of tyrosine kinase receptor (TIE2/TEK)

Multiple lesions: skin, oral mucosa, muscles

No intestinal VM’s

Back 60

Familial cutaneous & mucosal venous malformation (CMVM)

Front 61

Name the disorder:
Sporadic
Widely distributed dark blue papules/nodules
Skin colored compressible nodules
GI VM’s→hemorrhage, iron deficiency anemia
CNS, lung, heart involvement less common

Back 61

Blue rubber bleb nevus syndrome (Bean syndrome)

Front 62

Name the disorder:

Rare, sporadic

PTH/PTHrP mutation

VM’s (MC on extremities) + enchondromas

Risk of malignant transformation to chondrosarcoma

Spindle cell hemangioma
w/ VM on histo

Back 62

Maffucci Syndrome

Front 63

Mutation in Maffucci Syndrome

Back 63

Rare, sporadic
PTH/PTHrP mutation

Front 64

Clincal picture in Maffucci syndrome

Back 64

VM’s (MC on extremities) + enchondromas
Risk of malignant transformation to chondrosarcoma
Spindle cell hemangioma
w/ VM on histo

Front 65

Mutation in: CMVM

Back 65

AD
TEK gene "gain of function"
Activation of tyrosine kinae receptor (TIE2/TEK)

Front 66

Mutation in Bean Syndrome

Back 66

Sporadic

Front 67

Clinical findings in Familial Cutaneous & Mucosal venous malformation

Back 67

Multiple lesions: skin, oral mucosa, muscles
No intestinal VM’s as in Bean syndrome

Front 68

Clincal findings in Blue Rubber bleb nevus syndrome

Back 68

Widely distributed dark blue papules/nodules
Skin colored compressible nodules
GI VM’s→hemorrhage, iron deficiency anemia
CNS, lung, heart involvement less common

Front 69

Name the disorder:
VM + glomus cells
Small solitary lesions:
Nail bed MC, sporadic
Widely scattered blue-purple
nodules or in segmental
distribution
Multiple lesions usually familial
GLMN gene (AD) encoding glomulin
Hyperkeratotic, painful to palpation, partially compressible, no involvement of viscera or joints

Back 69

Glomangiomas & Familial Glomangiomatosis:
New name: glomuvenous malformations

Front 70

Eponym for Glomangiomas & Familial Glomangiomatosis

Back 70

Glomuvenous malformations

Front 71

Describe Clinical findings in Glomangiomas & Familial Glomangiomatosis

Back 71

VM + glomus cells
Small solitary lesions:
Nail bed MC, sporadic
Widely scattered blue-purple
nodules or in segmental
distribution
Multiple lesions usually familial
GLMN gene (AD) encoding glomulin
Hyperkeratotic, painful to palpation, partially compressible, no involvement of viscera or joints

Front 72

What gene is associated with
Glomangiomas & Familial Glomangiomatosis?

Back 72

Glomangiomas & Familial Glomangiomatosis:
New name: glomuvenous malformations

GLMN (AD) encoding glomulin

Front 73

Name the two types of congential Lymphedema

Back 73

Milroy disease (congenital, type I):
FLT4 mutation (encoding VEGFR3)

Meige lymphedema (late-onset, type II):
FOXC2 gene (forkhead family transcription factor C2)

Front 74

Name the disease that has:
FLT4 mutation (encoding VEGFR3)

Back 74

Milroy Disease (congenital lymphedema, type I)

Front 75

Name the disease that has:

FOXC2 gene (forkhead family transcription factor C2) mutation

Back 75

Meige lymphedema (late-onset, congenital lymphedema, type II)

Front 76

Besides congenital lymphedema, Lymphedema is also seen in two other syndromes

Back 76

Turner Syndrome
Noonan Syndrome

Front 77

Lymphatic malformations are due to what change in the lymphatics?

Back 77

Hyperplasia
(vs. lymphedema which is due to aplasia or hypoplasia of the lymphatics; can be congenital or acquired)

Front 78

Another name for Macrocystic LMs? where are they found?

Back 78

aka cystic hygromas
MC on neck, axilla, lateral chest wall

Front 79

What Dz are assoc with hygromas?

Back 79

Downs
Turners
Noonan

Front 80

what is another name for Microcystic Lymphatic malformations?

Back 80

Lymphangioma circumscriptum

Front 81

What complications can arise from lymphatic malformations?

Back 81

Mandibular overgrowth when bilateral
Cross bite, displacement of midline
Airway compromise when parapharyngeal, laryngeal
Dental caries w/ loss of teeth
Speech impediment
Poor lifetime prognosis for massive cervicofacial LM
LIC on trunk & limbs

Front 82

Treatment options for Lyphatic malformations?

Back 82

Microcystic LM’s
Excision
May require STSG, tissue expanders

Macrocystic LM’s
Percutaneous sclerotherapy
Picibani, OK 432 (killed bacteria)
Ethibloc
Pure ethanol

Surgery second-line if sclero fails

Front 83

What is the MC location for AV malformation?

Back 83

cephalic (70%)

Front 84

Is there a gender prevalence in AV Malformations?

Back 84

No

Front 85

What % of AV malformations are congenital?

Back 85

40%, visible at birth

Front 86

What are some things that may worsen an AV Malformation?

Back 86

Puberty
Pregnancy
Trauma

Front 87

What is the staging system for AV Malformations?

Back 87

Schobinger’s Staging:
1. Dormant – mimics PWS
2. Expansion – throbbing/thrills
3. Destruction – necrosis, ulcer, hemorrhage
4. Cardiac decompensation with stage 2 or 3

Front 88

Where are AVMs commonly located?

Back 88

Front 89

What are the syndromes associated with AVMs?

Back 89

Cobb Syndrome
Parkes-Weber syndrome
Bonnet-Dechaume-Blanc (Wyburn-Mason's)

Front 90

Name the d/o:
Skin (20%), spinal & vertebral AVMs
Red or red-brown stains mimicking PWS or throbbing masses w/ thrills
Congenital or develop late in life after neuro signs
Paraparesis & neuro deficits due to mass effect

Back 90

Cobb syndrome

Front 91

Describe Cobb Syndrome

Back 91

Skin (20%), spinal & vertebral AVMs
Red or red-brown stains mimicking PWS or throbbing masses w/ thrills
Congenital or develop late in life after neuro signs
Paraparesis & neuro deficits due to mass effect

Front 92

Name the d/o:
Multiple limb AVMs w/ Limb overgrowth

Back 92

Parkes-Weber Syndrome

Front 93

Another name for Bonnet-Dechaume-Blanc

Back 93

Wyburn-Mason's

Front 94

Name the d/o:
AVM w/ centrofacial, retinal & brain involvement
Brain AVM asymptomatic or causes sz, hemiparesis

Back 94

Bonnet-Dechaume-Blanc (aka Wyburn Masons')

Front 95

Describe findings in Bonnet-Dechaume-Blanc Syndrome

Back 95

AVM w/ centrofacial, retinal & brain involvement
Brain AVM asymptomatic or causes sz, hemiparesis

Front 96

How would you treat an AV Malformation?

Back 96

Conservative mgmt for stage 1 & 2

Head & neck stage 2 &3: wide excision after pre-op embolization (pure ethanol)

AVM of limbs:
Orthopedic evaluation
Vascular treatments
Elastic stockings, shoe-lift
Amputation