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113 Cards in this Set
- Front
- Back
Eponym for Sturge Weber Syndrome
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Encephalotrigeminal angiomatosis
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Inheritance pattern for Sturge Weber Syndrome
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Sporadic
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What is the pathogenesis for Sturge Weber?
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Defect in Morphogenesis within the cephalic neural crest --> abnormal vasculature
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T/F Bilateral Distribution is more common in Sturge Weber.
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False - unilateral is more commone
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Skin finding is Sturge Weber? Distribution?
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Facial Capillary malformation with soft tissue and skeletal hypertrophy
- trigeminal n. V1+/-V2,V3 |
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Name the characteristic MRI finding in Sturge Weber Syndrome
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Tram track calcification in temporal and occipital cortex
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CNS findings of Sturge Weber
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70% seizures
50% MR |
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Eye finding in sturge weber.
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Glaucoma
choroid malformation |
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Eponym of Klippel Trenaunay Syndrome
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Angio-osteohypertrophy syndrome
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Inheritance of Klippel Trenaunay.
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Sporadic
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What is the Variant of KTS with AV fistulas?
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Parkes-Weber variant
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Complication of KTS
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DVT with PE
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T/F - KTS has lymphatic malformations.
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Lymphatic malformation with/w/o lymphedema
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Name musculoskeletal findings of KTS.
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soft tissue and bony hypertrophy; increased limb length and girth
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Eponym of Cobb Syndrome
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Cutaneomeningospinal angiomatosis
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KTS skin findings with m/c locations and incidence
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Capillary Malformation
LE (95%), UE (5%), or combined 15% Unilateral in 85% |
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Eponym for Cobb Syndrome
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cutaneomeningospinal angiomatosis
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Inheritance of cobb syndrome
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Sporadic
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When do neurologic complications occur in Cobb Syndrome?
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Early Adulthood
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Skin findings in cobb syndrome
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Posterior thoracic/lumbar/limb vascular lesion in dermatomal distribution
overlies segment of spinal cord |
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Is the vascular malformation in cobb syndrome fast or slow flow?
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Fast Flow
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Where does the vascular malformation occur in Cobb syndrome?
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M/c in intramedullary spinal cord with secondary compression/anoxia, weakness
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Name the sydromes associated with PTEN mutations.
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Riley Smith
Bannayan Proteus |
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Name the inheritance pattern of proteus syndrome
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Sporadic
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Skin findings of proteus syndrome
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Soft subcutaneous masses (lymph; lymph-venous)
capillary malformations Lipomas epidermal nevi Palmar plantar hyperplasia varicosities |
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Name some musculoskeletal findings in proteus syndrome.
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Macrocephaly; facial assymmetry; scoliosis; syndactyly
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Which organ system can be involved in proteus (reports have been published)
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eyes:
strabismus cataracts blindness |
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Eponym for becwith widemann syndrome.
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Exomphalos-macroglossia-gigantism (EMG) syndrome
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Describe inheritance pattern of beckwith wiedemann syndrome.
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sporadic - p57 kip 2 gene
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What is the mutation found in beckwith wiedemann syndrome? and what does it do?
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P57 KIP2 gene
cyclin dependent kinase inhibitor -> neg regulator of cell proliferation -> overgrowth of organs. |
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What is the skin finding in beckwith wiedemann and where is it usually located?
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capillary malformation on mid-forehead, glabella, and upper eyelids
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Oral finding in Beckwith wiedemann?
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Macroglossia
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Ear findings in Beckwith Wiedemann syndrome.
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Linear earlobe creases; circular depressions on rim of posterior helicies
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Mnemnoic for Beckwith Wiedeman
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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 |
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What organs are enlarged in Beckwith-Wiedemann syndrome?
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Hepatomegaly; splenomegaly; nephromegaly; pancreatomegaly; cardiomegaly;
also omphalocele |
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What is the endocrine risk in Beckwith Wiedemann?
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Neonatal hypoglycemia
Risk of neuro sequelae |
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T/F Beckwith Wiedemann patients are extra large.
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True usu > 90% percentile
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What % of patients with Beckwith Wideemann have neoplasms?
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10%
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M/C types of tumors seen in Beckwith Widemena?
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Wilms>hepatoblastoma>adrenal cortical CA,rhabdomycoscarcome
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RF for tumor formation in Beckwith Wiedeman?
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Increased in patients with hemi hypertrophy
33% of patients have hemihypertrophy |
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T/F Beckwith Wiedemann patients typically have a normal life span.
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True as long as hypoglycemia is well controlled in baby.
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Inheritance pattern for VHL
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AD
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Gene defect
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mutation in VHL which is a tumor suppressor gene
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Eye findings in VHL
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retinal hemangioblastomas with secondary visual impairment -> blindness
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Name complications from CNS involvement of VHL.
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Increased ICP or spinal cord compression 2/2 cerebellar>medulalary SC hemangioblastomas
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M/C location of CNS hemangiomblastomas in VHL Syndrome
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Cerebellar> medullar,spinal cord
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Renal findings in VHL.
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renal ca, cysts
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Endocrine findings in patients with VHL
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pheo, pancreatic cysts, adrenal ca
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T/F 50% of patients with VHL have capillary malformations on head and neck
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False - < 5%
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Name the heme abnormality that can be seen in patients with VHL.
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Polycythemia
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Eponym for Ataxia-Telangiectasia (AT)
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Louis-Bar Syndrome
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Inheritance for AT; Gene defect
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AR; ATM gene - encodes for protein impt for DNA impair
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Repair mechanism for AT esp. important for what types of exposures?
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ionizing radiation
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What specialty is the major care taker for patients with AT?
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Neurologist
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Skin findings in patients with AT.
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cutaneous and bulbar telangiectasias; CALMS; granulomas
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CNS findings in patients with AT.
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cerebellar ataxia, nystagmus, slurred speech, intellectual impairment
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T/F patients with AT do not have recurrent viral or bacterial infections?
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False - they do.
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Increased risk of what type of CA in heterozygotes of the ATM gene?
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Breast cancer
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What types of malignancy are patients with AT at risk for?
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lymphoreticular;
breast in heterozygotes. |
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What immunoglobulins are decreased or absent in AT?
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IgA, IgG2, IgE
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Medication that patients with AT should avoid
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Bleomycin
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Eponym for HHT?
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Osler Weber Rendu Syndrome
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Name the inheritance and genes of HHT.
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AD:
HHT1 - endoglin HHT2 - ALK1 |
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Presenting symtpom in 50% of patients with HHT.
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epistaxis at early childhood
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What does the defective gene in HHT1 encode for?
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endoglin - TGF B binding protein on endothelial cells important for angiogenesis
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What does the defective gene in HHT2 encode for?
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ALK1 - expressed on endothelal cells
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T/F the Cutaneous and GI telangiectasias usually begin later than the mucoasal
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true
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What do HHT1 families have an increased incidence of?
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pulmonary AV fistula
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What do HHT2 families have increased risk for?
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heptic AVMs
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Inheritance of Cutis Marmorata Telangiectatica Congenita.
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sporadic
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Skin findings in CMTC
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atrophic reticulated vascular patches on extr>trun>face
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Name eye findings in CMTC
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Glaucoma
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T/F patients with CMTC usually have normal intelligence.
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False - MR
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What is the most common problem with patient with CMTC?
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Ipsilateral hemiatrophy or hemihypertrophy of extremity.
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Name inheritance of mafucci syndrome.
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Sporadic
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Name the key skin finding found in mafuccis? And where usually?
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Superficial and deep venous malformations;
usually on hands and feet |
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Name the tumor found in mafucchis
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enchondromas - benign cartilage tumors; secondary fx
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Neoplasm found in 15-20% of pt with maffucci
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chondrosarcoma - occurs within enchondromas
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What is the name of enchondromatosis without venous malformations.
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Ollier's
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T/F PTs with maffucci syndrome will have a normal lifespan unless malignancy.
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True
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Blue rubber bleb nevus syndrome inheritance pattern.
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Sporadic
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Features of the blebs in blue rubber bleb syndrome
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Can have pain; can have hyherhidrosis
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Type of malformation in blue rubber bleb syndrome
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vENOUS MALFORMATIONS
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What is a complication in Blue rubber bleb syndrome?
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Hemorrhage and anemia due to venous malformations in the small intestine.
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Name the inheritance of kasabach merritt syndrome
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sporadic
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pathogenesis of kasabach merritt
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consumptive coagulopathy within a kaposiform hemangioendothelioma or tufted angioma
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Name the most common tumors found in kasabach merritt
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kaposiform hemangioendotheliomas or tufted angiomas;
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Other skin findings in casabach merritt
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ecchmoses and petechiae
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Hematologic issues of kasabach merritt
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thrombycytopenia; microangiopatchi hemolytic anemia, DIC
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Name a risk oin young infants treated with IFN alpha?
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spastic diplegia
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T/F Mortality due to hemorrhage, infxn in kasabach merritt is 20%
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True
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Name complication 2/2 hematolgoic abnormalities in kasabach merritt.
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CHF
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Most common site of hemangiomas in diffuse neonatal hemangiomatosis
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Liver > lungs, GI
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Complications of liver hemangiomas.
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Heptaomegaly, portal HTN, hemorrhage, anemia
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How many hemangiomas do you need to do full eval?
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>6
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What is most of the mortality caused by?
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CHF, hemorrhage infxn
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Name complication 2/2 hematolgoic abnormalities in kasabach merritt.
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CHF
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PHACES
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Posterios fossa brain malforamtions
Hemangioma (large facial) ARterial anomalies Cardiac anomalies and aortic coarc Eye Sternal clefting/Supraumbilical raph |
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Most common site of hemangiomas in diffuse neonatal hemangiomatosis
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Liver > lungs, GI
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Inheriance of PHACES
Demographics of sex? |
sporadic; F>M
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Complications of liver hemangiomas.
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Heptaomegaly, portal HTN, hemorrhage, anemia
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M/C location of plaque like hemangioma
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Unilateral V1, left sided
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How many hemangiomas do you need to do full eval?
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>6
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What is most of the mortality caused by?
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CHF, hemorrhage infxn
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M/C posterior fossa malformation in PHACES
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Dandy Walker, hypoplasia of the cerebellum
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PHACES
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Posterios fossa brain malforamtions
Hemangioma (large facial) ARterial anomalies Cardiac anomalies and aortic coarc Eye Sternal clefting/Supraumbilical raph |
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Name some arterial abnormalties seen in PHACES.
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dilatation of the ICA and ceregral arteries
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Inheriance of PHACES
Demographics of sex? |
sporadic; F>M
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M/C location of plaque like hemangioma
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Unilateral V1, left sided
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M/C posterior fossa malformation in PHACES
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Dandy Walker, hypoplasia of the cerebellum
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Name some arterial abnormalties seen in PHACES.
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dilatation of the ICA and cerebral arteries; anomalies of brachiocephalic and aortic arch
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MC cardiac abnormaties in PHACES
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coarctation of the aorta
also VSD, ASD, PDA |
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Name some eye abnormatlities found in PHACES
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optic atrophy; cataracts; microphthalmos
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