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113 Cards in this Set

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Eponym for Sturge Weber Syndrome
Encephalotrigeminal angiomatosis
Inheritance pattern for Sturge Weber Syndrome
Sporadic
What is the pathogenesis for Sturge Weber?
Defect in Morphogenesis within the cephalic neural crest --> abnormal vasculature
T/F Bilateral Distribution is more common in Sturge Weber.
False - unilateral is more commone
Skin finding is Sturge Weber? Distribution?
Facial Capillary malformation with soft tissue and skeletal hypertrophy
- trigeminal n. V1+/-V2,V3
Name the characteristic MRI finding in Sturge Weber Syndrome
Tram track calcification in temporal and occipital cortex
CNS findings of Sturge Weber
70% seizures
50% MR
Eye finding in sturge weber.
Glaucoma
choroid malformation
Eponym of Klippel Trenaunay Syndrome
Angio-osteohypertrophy syndrome
Inheritance of Klippel Trenaunay.
Sporadic
What is the Variant of KTS with AV fistulas?
Parkes-Weber variant
Complication of KTS
DVT with PE
T/F - KTS has lymphatic malformations.
Lymphatic malformation with/w/o lymphedema
Name musculoskeletal findings of KTS.
soft tissue and bony hypertrophy; increased limb length and girth
Eponym of Cobb Syndrome
Cutaneomeningospinal angiomatosis
KTS skin findings with m/c locations and incidence
Capillary Malformation
LE (95%), UE (5%), or combined 15%
Unilateral in 85%
Eponym for Cobb Syndrome
cutaneomeningospinal angiomatosis
Inheritance of cobb syndrome
Sporadic
When do neurologic complications occur in Cobb Syndrome?
Early Adulthood
Skin findings in cobb syndrome
Posterior thoracic/lumbar/limb vascular lesion in dermatomal distribution

overlies segment of spinal cord
Is the vascular malformation in cobb syndrome fast or slow flow?
Fast Flow
Where does the vascular malformation occur in Cobb syndrome?
M/c in intramedullary spinal cord with secondary compression/anoxia, weakness
Name the sydromes associated with PTEN mutations.
Riley Smith
Bannayan
Proteus
Name the inheritance pattern of proteus syndrome
Sporadic
Skin findings of proteus syndrome
Soft subcutaneous masses (lymph; lymph-venous)
capillary malformations
Lipomas
epidermal nevi
Palmar plantar hyperplasia
varicosities
Name some musculoskeletal findings in proteus syndrome.
Macrocephaly; facial assymmetry; scoliosis; syndactyly
Which organ system can be involved in proteus (reports have been published)
eyes:
strabismus
cataracts
blindness
Eponym for becwith widemann syndrome.
Exomphalos-macroglossia-gigantism (EMG) syndrome
Describe inheritance pattern of beckwith wiedemann syndrome.
sporadic - p57 kip 2 gene
What is the mutation found in beckwith wiedemann syndrome? and what does it do?
P57 KIP2 gene

cyclin dependent kinase inhibitor -> neg regulator of cell proliferation -> overgrowth of organs.
What is the skin finding in beckwith wiedemann and where is it usually located?
capillary malformation on mid-forehead, glabella, and upper eyelids
Oral finding in Beckwith wiedemann?
Macroglossia
Ear findings in Beckwith Wiedemann syndrome.
Linear earlobe creases; circular depressions on rim of posterior helicies
Mnemnoic for Beckwith Wiedeman
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
What organs are enlarged in Beckwith-Wiedemann syndrome?
Hepatomegaly; splenomegaly; nephromegaly; pancreatomegaly; cardiomegaly;
also omphalocele
What is the endocrine risk in Beckwith Wiedemann?
Neonatal hypoglycemia
Risk of neuro sequelae
T/F Beckwith Wiedemann patients are extra large.
True usu > 90% percentile
What % of patients with Beckwith Wideemann have neoplasms?
10%
M/C types of tumors seen in Beckwith Widemena?
Wilms>hepatoblastoma>adrenal cortical CA,rhabdomycoscarcome
RF for tumor formation in Beckwith Wiedeman?
Increased in patients with hemi hypertrophy

33% of patients have hemihypertrophy
T/F Beckwith Wiedemann patients typically have a normal life span.
True as long as hypoglycemia is well controlled in baby.
Inheritance pattern for VHL
AD
Gene defect
mutation in VHL which is a tumor suppressor gene
Eye findings in VHL
retinal hemangioblastomas with secondary visual impairment -> blindness
Name complications from CNS involvement of VHL.
Increased ICP or spinal cord compression 2/2 cerebellar>medulalary SC hemangioblastomas
M/C location of CNS hemangiomblastomas in VHL Syndrome
Cerebellar> medullar,spinal cord
Renal findings in VHL.
renal ca, cysts
Endocrine findings in patients with VHL
pheo, pancreatic cysts, adrenal ca
T/F 50% of patients with VHL have capillary malformations on head and neck
False - < 5%
Name the heme abnormality that can be seen in patients with VHL.
Polycythemia
Eponym for Ataxia-Telangiectasia (AT)
Louis-Bar Syndrome
Inheritance for AT; Gene defect
AR; ATM gene - encodes for protein impt for DNA impair
Repair mechanism for AT esp. important for what types of exposures?
ionizing radiation
What specialty is the major care taker for patients with AT?
Neurologist
Skin findings in patients with AT.
cutaneous and bulbar telangiectasias; CALMS; granulomas
CNS findings in patients with AT.
cerebellar ataxia, nystagmus, slurred speech, intellectual impairment
T/F patients with AT do not have recurrent viral or bacterial infections?
False - they do.
Increased risk of what type of CA in heterozygotes of the ATM gene?
Breast cancer
What types of malignancy are patients with AT at risk for?
lymphoreticular;

breast in heterozygotes.
What immunoglobulins are decreased or absent in AT?
IgA, IgG2, IgE
Medication that patients with AT should avoid
Bleomycin
Eponym for HHT?
Osler Weber Rendu Syndrome
Name the inheritance and genes of HHT.
AD:
HHT1 - endoglin
HHT2 - ALK1
Presenting symtpom in 50% of patients with HHT.
epistaxis at early childhood
What does the defective gene in HHT1 encode for?
endoglin - TGF B binding protein on endothelial cells important for angiogenesis
What does the defective gene in HHT2 encode for?
ALK1 - expressed on endothelal cells
T/F the Cutaneous and GI telangiectasias usually begin later than the mucoasal
true
What do HHT1 families have an increased incidence of?
pulmonary AV fistula
What do HHT2 families have increased risk for?
heptic AVMs
Inheritance of Cutis Marmorata Telangiectatica Congenita.
sporadic
Skin findings in CMTC
atrophic reticulated vascular patches on extr>trun>face
Name eye findings in CMTC
Glaucoma
T/F patients with CMTC usually have normal intelligence.
False - MR
What is the most common problem with patient with CMTC?
Ipsilateral hemiatrophy or hemihypertrophy of extremity.
Name inheritance of mafucci syndrome.
Sporadic
Name the key skin finding found in mafuccis? And where usually?
Superficial and deep venous malformations;
usually on hands and feet
Name the tumor found in mafucchis
enchondromas - benign cartilage tumors; secondary fx
Neoplasm found in 15-20% of pt with maffucci
chondrosarcoma - occurs within enchondromas
What is the name of enchondromatosis without venous malformations.
Ollier's
T/F PTs with maffucci syndrome will have a normal lifespan unless malignancy.
True
Blue rubber bleb nevus syndrome inheritance pattern.
Sporadic
Features of the blebs in blue rubber bleb syndrome
Can have pain; can have hyherhidrosis
Type of malformation in blue rubber bleb syndrome
vENOUS MALFORMATIONS
What is a complication in Blue rubber bleb syndrome?
Hemorrhage and anemia due to venous malformations in the small intestine.
Name the inheritance of kasabach merritt syndrome
sporadic
pathogenesis of kasabach merritt
consumptive coagulopathy within a kaposiform hemangioendothelioma or tufted angioma
Name the most common tumors found in kasabach merritt
kaposiform hemangioendotheliomas or tufted angiomas;
Other skin findings in casabach merritt
ecchmoses and petechiae
Hematologic issues of kasabach merritt
thrombycytopenia; microangiopatchi hemolytic anemia, DIC
Name a risk oin young infants treated with IFN alpha?
spastic diplegia
T/F Mortality due to hemorrhage, infxn in kasabach merritt is 20%
True
Name complication 2/2 hematolgoic abnormalities in kasabach merritt.
CHF
Most common site of hemangiomas in diffuse neonatal hemangiomatosis
Liver > lungs, GI
Complications of liver hemangiomas.
Heptaomegaly, portal HTN, hemorrhage, anemia
How many hemangiomas do you need to do full eval?
>6
What is most of the mortality caused by?
CHF, hemorrhage infxn
Name complication 2/2 hematolgoic abnormalities in kasabach merritt.
CHF
PHACES
Posterios fossa brain malforamtions
Hemangioma (large facial)
ARterial anomalies
Cardiac anomalies and aortic coarc
Eye
Sternal clefting/Supraumbilical raph
Most common site of hemangiomas in diffuse neonatal hemangiomatosis
Liver > lungs, GI
Inheriance of PHACES
Demographics of sex?
sporadic; F>M
Complications of liver hemangiomas.
Heptaomegaly, portal HTN, hemorrhage, anemia
M/C location of plaque like hemangioma
Unilateral V1, left sided
How many hemangiomas do you need to do full eval?
>6
What is most of the mortality caused by?
CHF, hemorrhage infxn
M/C posterior fossa malformation in PHACES
Dandy Walker, hypoplasia of the cerebellum
PHACES
Posterios fossa brain malforamtions
Hemangioma (large facial)
ARterial anomalies
Cardiac anomalies and aortic coarc
Eye
Sternal clefting/Supraumbilical raph
Name some arterial abnormalties seen in PHACES.
dilatation of the ICA and ceregral arteries
Inheriance of PHACES
Demographics of sex?
sporadic; F>M
M/C location of plaque like hemangioma
Unilateral V1, left sided
M/C posterior fossa malformation in PHACES
Dandy Walker, hypoplasia of the cerebellum
Name some arterial abnormalties seen in PHACES.
dilatation of the ICA and cerebral arteries; anomalies of brachiocephalic and aortic arch
MC cardiac abnormaties in PHACES
coarctation of the aorta

also VSD, ASD, PDA
Name some eye abnormatlities found in PHACES
optic atrophy; cataracts; microphthalmos