Spitz Do Of Vascular Stuff Ch. 3

Front 1

Eponym for Sturge Weber Syndrome

Back 1

Encephalotrigeminal angiomatosis

Front 2

Inheritance pattern for Sturge Weber Syndrome

Back 2

Sporadic

Front 3

What is the pathogenesis for Sturge Weber?

Back 3

Defect in Morphogenesis within the cephalic neural crest --> abnormal vasculature

Front 4

T/F Bilateral Distribution is more common in Sturge Weber.

Back 4

False - unilateral is more commone

Front 5

Skin finding is Sturge Weber? Distribution?

Back 5

Facial Capillary malformation with soft tissue and skeletal hypertrophy
- trigeminal n. V1+/-V2,V3

Front 6

Name the characteristic MRI finding in Sturge Weber Syndrome

Back 6

Tram track calcification in temporal and occipital cortex

Front 7

CNS findings of Sturge Weber

Back 7

70% seizures
50% MR

Front 8

Eye finding in sturge weber.

Back 8

Glaucoma
choroid malformation

Front 9

Eponym of Klippel Trenaunay Syndrome

Back 9

Angio-osteohypertrophy syndrome

Front 10

Inheritance of Klippel Trenaunay.

Back 10

Sporadic

Front 11

What is the Variant of KTS with AV fistulas?

Back 11

Parkes-Weber variant

Front 12

Complication of KTS

Back 12

DVT with PE

Front 13

T/F - KTS has lymphatic malformations.

Back 13

Lymphatic malformation with/w/o lymphedema

Front 14

Name musculoskeletal findings of KTS.

Back 14

soft tissue and bony hypertrophy; increased limb length and girth

Front 15

Eponym of Cobb Syndrome

Back 15

Cutaneomeningospinal angiomatosis

Front 16

KTS skin findings with m/c locations and incidence

Back 16

Capillary Malformation
LE (95%), UE (5%), or combined 15%
Unilateral in 85%

Front 17

Eponym for Cobb Syndrome

Back 17

cutaneomeningospinal angiomatosis

Front 18

Inheritance of cobb syndrome

Back 18

Sporadic

Front 19

When do neurologic complications occur in Cobb Syndrome?

Back 19

Early Adulthood

Front 20

Skin findings in cobb syndrome

Back 20

Posterior thoracic/lumbar/limb vascular lesion in dermatomal distribution

overlies segment of spinal cord

Front 21

Is the vascular malformation in cobb syndrome fast or slow flow?

Back 21

Fast Flow

Front 22

Where does the vascular malformation occur in Cobb syndrome?

Back 22

M/c in intramedullary spinal cord with secondary compression/anoxia, weakness

Front 23

Name the sydromes associated with PTEN mutations.

Back 23

Riley Smith
Bannayan
Proteus

Front 24

Name the inheritance pattern of proteus syndrome

Back 24

Sporadic

Front 25

Skin findings of proteus syndrome

Back 25

Soft subcutaneous masses (lymph; lymph-venous)
capillary malformations
Lipomas
epidermal nevi
Palmar plantar hyperplasia
varicosities

Front 26

Name some musculoskeletal findings in proteus syndrome.

Back 26

Macrocephaly; facial assymmetry; scoliosis; syndactyly

Front 27

Which organ system can be involved in proteus (reports have been published)

Back 27

eyes:
strabismus
cataracts
blindness

Front 28

Eponym for becwith widemann syndrome.

Back 28

Exomphalos-macroglossia-gigantism (EMG) syndrome

Front 29

Describe inheritance pattern of beckwith wiedemann syndrome.

Back 29

sporadic - p57 kip 2 gene

Front 30

What is the mutation found in beckwith wiedemann syndrome? and what does it do?

Back 30

P57 KIP2 gene

cyclin dependent kinase inhibitor -> neg regulator of cell proliferation -> overgrowth of organs.

Front 31

What is the skin finding in beckwith wiedemann and where is it usually located?

Back 31

capillary malformation on mid-forehead, glabella, and upper eyelids

Front 32

Oral finding in Beckwith wiedemann?

Back 32

Macroglossia

Front 33

Ear findings in Beckwith Wiedemann syndrome.

Back 33

Linear earlobe creases; circular depressions on rim of posterior helicies

Front 34

Mnemnoic for Beckwith Wiedeman

Back 34

T = tumors
O = organomegaly/omphalocele
N = neonatal hypoglycemia
G = gigantism/glabellar stain
U = U/S frequents (eval for embryonic tumors)
E = earlobe crease/ear pits

Front 35

What organs are enlarged in Beckwith-Wiedemann syndrome?

Back 35

Hepatomegaly; splenomegaly; nephromegaly; pancreatomegaly; cardiomegaly;
also omphalocele

Front 36

What is the endocrine risk in Beckwith Wiedemann?

Back 36

Neonatal hypoglycemia
Risk of neuro sequelae

Front 37

T/F Beckwith Wiedemann patients are extra large.

Back 37

True usu > 90% percentile

Front 38

What % of patients with Beckwith Wideemann have neoplasms?

Back 38

10%

Front 39

M/C types of tumors seen in Beckwith Widemena?

Back 39

Wilms>hepatoblastoma>adrenal cortical CA,rhabdomycoscarcome

Front 40

RF for tumor formation in Beckwith Wiedeman?

Back 40

Increased in patients with hemi hypertrophy

33% of patients have hemihypertrophy

Front 41

T/F Beckwith Wiedemann patients typically have a normal life span.

Back 41

True as long as hypoglycemia is well controlled in baby.

Front 42

Inheritance pattern for VHL

Back 42

AD

Front 43

Gene defect

Back 43

mutation in VHL which is a tumor suppressor gene

Front 44

Eye findings in VHL

Back 44

retinal hemangioblastomas with secondary visual impairment -> blindness

Front 45

Name complications from CNS involvement of VHL.

Back 45

Increased ICP or spinal cord compression 2/2 cerebellar>medulalary SC hemangioblastomas

Front 46

M/C location of CNS hemangiomblastomas in VHL Syndrome

Back 46

Cerebellar> medullar,spinal cord

Front 47

Renal findings in VHL.

Back 47

renal ca, cysts

Front 48

Endocrine findings in patients with VHL

Back 48

pheo, pancreatic cysts, adrenal ca

Front 49

T/F 50% of patients with VHL have capillary malformations on head and neck

Back 49

False - < 5%

Front 50

Name the heme abnormality that can be seen in patients with VHL.

Back 50

Polycythemia

Front 51

Eponym for Ataxia-Telangiectasia (AT)

Back 51

Louis-Bar Syndrome

Front 52

Inheritance for AT; Gene defect

Back 52

AR; ATM gene - encodes for protein impt for DNA impair

Front 53

Repair mechanism for AT esp. important for what types of exposures?

Back 53

ionizing radiation

Front 54

What specialty is the major care taker for patients with AT?

Back 54

Neurologist

Front 55

Skin findings in patients with AT.

Back 55

cutaneous and bulbar telangiectasias; CALMS; granulomas

Front 56

CNS findings in patients with AT.

Back 56

cerebellar ataxia, nystagmus, slurred speech, intellectual impairment

Front 57

T/F patients with AT do not have recurrent viral or bacterial infections?

Back 57

False - they do.

Front 58

Increased risk of what type of CA in heterozygotes of the ATM gene?

Back 58

Breast cancer

Front 59

What types of malignancy are patients with AT at risk for?

Back 59

lymphoreticular;

breast in heterozygotes.

Front 60

What immunoglobulins are decreased or absent in AT?

Back 60

IgA, IgG2, IgE

Front 61

Medication that patients with AT should avoid

Back 61

Bleomycin

Front 62

Eponym for HHT?

Back 62

Osler Weber Rendu Syndrome

Front 63

Name the inheritance and genes of HHT.

Back 63

AD:
HHT1 - endoglin
HHT2 - ALK1

Front 64

Presenting symtpom in 50% of patients with HHT.

Back 64

epistaxis at early childhood

Front 65

What does the defective gene in HHT1 encode for?

Back 65

endoglin - TGF B binding protein on endothelial cells important for angiogenesis

Front 66

What does the defective gene in HHT2 encode for?

Back 66

ALK1 - expressed on endothelal cells

Front 67

T/F the Cutaneous and GI telangiectasias usually begin later than the mucoasal

Back 67

true

Front 68

What do HHT1 families have an increased incidence of?

Back 68

pulmonary AV fistula

Front 69

What do HHT2 families have increased risk for?

Back 69

heptic AVMs

Front 70

Inheritance of Cutis Marmorata Telangiectatica Congenita.

Back 70

sporadic

Front 71

Skin findings in CMTC

Back 71

atrophic reticulated vascular patches on extr>trun>face

Front 72

Name eye findings in CMTC

Back 72

Glaucoma

Front 73

T/F patients with CMTC usually have normal intelligence.

Back 73

False - MR

Front 74

What is the most common problem with patient with CMTC?

Back 74

Ipsilateral hemiatrophy or hemihypertrophy of extremity.

Front 75

Name inheritance of mafucci syndrome.

Back 75

Sporadic

Front 76

Name the key skin finding found in mafuccis? And where usually?

Back 76

Superficial and deep venous malformations;
usually on hands and feet

Front 77

Name the tumor found in mafucchis

Back 77

enchondromas - benign cartilage tumors; secondary fx

Front 78

Neoplasm found in 15-20% of pt with maffucci

Back 78

chondrosarcoma - occurs within enchondromas

Front 79

What is the name of enchondromatosis without venous malformations.

Back 79

Ollier's

Front 80

T/F PTs with maffucci syndrome will have a normal lifespan unless malignancy.

Back 80

True

Front 81

Blue rubber bleb nevus syndrome inheritance pattern.

Back 81

Sporadic

Front 82

Features of the blebs in blue rubber bleb syndrome

Back 82

Can have pain; can have hyherhidrosis

Front 83

Type of malformation in blue rubber bleb syndrome

Back 83

vENOUS MALFORMATIONS

Front 84

What is a complication in Blue rubber bleb syndrome?

Back 84

Hemorrhage and anemia due to venous malformations in the small intestine.

Front 85

Name the inheritance of kasabach merritt syndrome

Back 85

sporadic

Front 86

pathogenesis of kasabach merritt

Back 86

consumptive coagulopathy within a kaposiform hemangioendothelioma or tufted angioma

Front 87

Name the most common tumors found in kasabach merritt

Back 87

kaposiform hemangioendotheliomas or tufted angiomas;

Front 88

Other skin findings in casabach merritt

Back 88

ecchmoses and petechiae

Front 89

Hematologic issues of kasabach merritt

Back 89

thrombycytopenia; microangiopatchi hemolytic anemia, DIC

Front 90

Name a risk oin young infants treated with IFN alpha?

Back 90

spastic diplegia

Front 91

T/F Mortality due to hemorrhage, infxn in kasabach merritt is 20%

Back 91

True

Front 92

Name complication 2/2 hematolgoic abnormalities in kasabach merritt.

Back 92

CHF

Front 93

Most common site of hemangiomas in diffuse neonatal hemangiomatosis

Back 93

Liver > lungs, GI

Front 94

Complications of liver hemangiomas.

Back 94

Heptaomegaly, portal HTN, hemorrhage, anemia

Front 95

How many hemangiomas do you need to do full eval?

Back 95

>6

Front 96

What is most of the mortality caused by?

Back 96

CHF, hemorrhage infxn

Front 97

Name complication 2/2 hematolgoic abnormalities in kasabach merritt.

Back 97

CHF

Front 98

PHACES

Back 98

Posterios fossa brain malforamtions
Hemangioma (large facial)
ARterial anomalies
Cardiac anomalies and aortic coarc
Eye
Sternal clefting/Supraumbilical raph

Front 99

Most common site of hemangiomas in diffuse neonatal hemangiomatosis

Back 99

Liver > lungs, GI

Front 100

Inheriance of PHACES
Demographics of sex?

Back 100

sporadic; F>M

Front 101

Complications of liver hemangiomas.

Back 101

Heptaomegaly, portal HTN, hemorrhage, anemia

Front 102

M/C location of plaque like hemangioma

Back 102

Unilateral V1, left sided

Front 103

How many hemangiomas do you need to do full eval?

Back 103

>6

Front 104

What is most of the mortality caused by?

Back 104

CHF, hemorrhage infxn

Front 105

M/C posterior fossa malformation in PHACES

Back 105

Dandy Walker, hypoplasia of the cerebellum

Front 106

PHACES

Back 106

Posterios fossa brain malforamtions
Hemangioma (large facial)
ARterial anomalies
Cardiac anomalies and aortic coarc
Eye
Sternal clefting/Supraumbilical raph

Front 107

Name some arterial abnormalties seen in PHACES.

Back 107

dilatation of the ICA and ceregral arteries

Front 108

Inheriance of PHACES
Demographics of sex?

Back 108

sporadic; F>M

Front 109

M/C location of plaque like hemangioma

Back 109

Unilateral V1, left sided

Front 110

M/C posterior fossa malformation in PHACES

Back 110

Dandy Walker, hypoplasia of the cerebellum

Front 111

Name some arterial abnormalties seen in PHACES.

Back 111

dilatation of the ICA and cerebral arteries; anomalies of brachiocephalic and aortic arch

Front 112

MC cardiac abnormaties in PHACES

Back 112

coarctation of the aorta

also VSD, ASD, PDA

Front 113

Name some eye abnormatlities found in PHACES

Back 113

optic atrophy; cataracts; microphthalmos