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54 Cards in this Set
- Front
- Back
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What does PHACES stand for? mode of inheritance? |
Posterior fossa brain malformation (DW) Hemangiomas Arterial abnormalities (occlusions, dilations of internal carotid artery and cerebellar arteries leading to seizure) Cardiac defects (coarcted aorta, aneurysm, ASD, PFO) Eye abnormalities (microphthalmos, optic atrophy, cataracts) Sternal cleft/supraumbilical raphae sporadic* |
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What is the most common posterior fossa defect in PHACES? most common cardiac abnormality? |
Dandy Walker (developmental anomaly of the 4th ventricle, cerebellar hypoplasia, hydrocephalus, posterior fossa cyst) Coarctation of the aorta |
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What special consideration has to be given to patients with facial hemangiomas in the beard distribution? |
ENT referral to r/o subglottic hemangiomas |
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What is PELVIS syndrome? |
Perineal hemangioma External genital malformation Lipomyelomeningocele Vesicorenal anomalies Imperforate anus Skin tags |
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What is SACRAL syndrome? |
Spinal dysraphism Anogenital anomalies Cutaneous anomalies Renal and urologic anomalies Angioma of Lumbosacral localization |
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What is blue rubber bleb nevus syndrome? |
multiple soft, dark blue, compressible venous malformations (*nocturnal pain, perilesional sweating) GI venous malformations (*MC small intestine) Hemorrhage and anemia |
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What medication has been shown to benefit patients with multiple bleeding episodes due to numerous gastointestinal lesions? |
octreotide |
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What tumors are most frequently associated with this? |
Kaposiform hemangioendothelioma Tuften angioma a/w Kawabach Merritt syndrome |
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What adverse outcomes are associated with Kasabach Merritt syndrome? |
catastrophic hemorrhage thrombocytopenia, DIC CHF |
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Defect? What lab should be checked? |
Sporadic Diffuse neonatal hemangiomatosis check TSH |
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Which visceral organ is most common involved in diffuse neonatal hemangiomatosis? |
liver |
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Defect? |
SPORADIC! Sturge Weber- triad of PWS, ipsilateral vascular malformation of the CNS, choroid of the eye |
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What is the most common eye abnormality in sturge weber syndrome? |
GLAUCOMA Buphthalmos- enlargement of the eye, often d/t glaucoma |
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Radiologic finding in Sturge Weber? |
'Tram track' calcification |
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Defect? |
Klippel Trenaunay syndrome SPORADIC |
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What is Klippel Trenaunay syndrome? |
Large unilateral extremity capillary malformation --> soft tissue and bony hypertrophy, varicose veins, lymphedema, phleboliths, DVTs |
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What is the name of the syndrome for venous malformation of a limb with 'undergrowth' of the limb? |
Servelle Martorell syndrome |
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Disorder? |
Cobb syndrome aka cutaneomeningospinal angiomatosis Vascular lesion in dermal distribution overlying the involved segment of spinal cord The vascular lesion in the spinal cord compresses it --> pain, weakness, atrophy, bowel/bladder dysfunction |
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syndrome? |
Proteus syndrome Unilateral verrucous epidermal nevus, capillary malformations, visceral hamartomas, massive bony and soft tissue hypertrophy, scoliosis, syndactyly |
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Gene defect with Proteus syndrome? |
AKT1 |
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List the PTEN defect genetic syndromes? |
Proteus like syndrome Bannayan Riley Ruvalcaba Cowden |
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Musculoskeletal findings in Proteus syndrome? |
macrocephaly, frontal bossing, bony hypertrophy of limbs, scoliosis, syndactyly |
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Beckwith Wiedemann syndrome is caused by a sporadic mutation in... |
KIP2 (p57) --> kinase inhibitor that is a negative regulator of cell growth, leads to overgrowth of organs |
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What neoplasms are associated with Beckwith Wiedemann? |
Wilm's tumor, hepatoblastomas, adrenal cortical carcinoma, rhabdomyosarcoma |
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Features of Beckwith Wiedemann syndrome? |
aka EMG syndrome (exophthalmos/macroglossia/gigantism) capillary malformation on forehead, gigantism, macroglossia, omphalocele, organomegaly, hemihypertrophy |
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Mode of inheritance and gene defect seen in Von Hippel Lindau syndrome? |
AD VHL |
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Hemangioblastomas found in Von Hippel Lindau common where? |
Retinal hemangioblastomas Cerebellar > medullary > spinal hemangioblastomas |
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Capillary malformations are only seen in what percent of Von Hippel Lindau syndrome? |
<5% so naturally we need to know everything about it. |
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Polycythemia in Von HIppel Lindau is due to? |
erythropoietin from renal cell carcinoma |
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Louis Bar syndrome is a mutation in... |
ATM gene- DNA repair --> defective cellular and humoral immunity, depletion of cerebellar Purkinje cells Louis Bar syndrome aka Ataxia Telangiectasia |
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Female heterozygotes for ataxia telangiectasia increase their risk of ... |
increase 5x for breast CA |
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Presentation of Ataxia Telangiectasia? |
Ataxia first near 1 year --> bulbar telangiectases 3-6 years, recurrent infection most are confined to a wheel chair by age 10 |
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Mutation? |
HHT1: Endoglin --> TGFB binding protin on endothelial cells essential for angiogenesis HHT2: ALK-1/ACVRL1 HHT3: ? HHT4: ? |
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Sites of bleeding in HHT? |
HHT1: pulmonary bleeding, AV fistulas HHT2: more GI bleeding, presenting sign in 25% |
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Topical treatment for HHT? |
tranexamic acid |
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Defect? |
Cornelia de Lange AD: NIPBL X linked: SMC1L1 |
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Manifestations of Cornelia de Lange? |
cutis marmorata hypertrichosis synophrys trichomegaly microcephaly/MR low set ears limb aplasia CHD (pulmonary stenosis) clinodactyly of 5th finger |
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What is Maffucci syndrome? |
venous malformations on distal extremities with enchondromas *may see chondrosarcomas in 15-20% of enchondromas |
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Name this syndrome: - defect in morphogenesis within cephalic neural crest - seizures 1-2 years old - tram track calcification in temporal cortex - glaucoma |
Sturge Weber syndrome |
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Name this syndrome: - Increased vascular supply leads to limb hypertrophy - Parkes Weber variant - Lymphatic malformation |
Klippel Trenaunay |
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Name this syndrome: - Neurologic complications develop in early adulthood - fast flow vascular malformation in the intramedullary spinal cord with secondary compression - post thoracic/lumbar/limb vascular lesion in a dermatomal distribution |
Cobb syndrome |
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Name this syndrome: -linear epidermal nevus -strabismus/cataracts - capillary malformations/subcutaneous masses - striking plantar hyperplasia |
Proteus |
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Name this syndrome: -omphalocele, macroglosia, hemihypertrophy - capillary malformation on mid forehead |
Beckwith Wiedemann |
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Name this syndrome: -retinal hemangioblastoma -cerebellar> medullary hemangioblastoma - pheochromocytoma, RCC |
Von Hippel Lindau |
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Name this syndrome: -progressive depletion of Prukinje cells in cerebellum -cutaneous and bulbar telangiectasias -increased risk of breast cancer |
Ataxia Telangiectasia |
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Name this syndrome: -MC in whites -epistaxis -hepatic/pulmonary AVMs |
HHT |
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Name this syndrome: -ipsilateral hemiatrophy >hemihypertrophy of limb -PDA, AS -glaucoma -atrophic vascular patches on the extremities> trunk> face |
cutis marmorata telangiectatica congenita |
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Name this syndrome: chrondrosarcoma occurs within endochondromas |
Maffucci |
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Name this syndrome: - small intestine venous malformations - tones of soft, dark blue compressible nodules on trunk and extremities what do we need to routinely check? |
Blue rubber bleb nevus check CBC and stool guiac |
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Name this syndrome: - thrombocytopenia, microangiopathic hemolytic anemia - large rapidly growing, tender reddish-purple soft tissue vascular mass with purpura - a/w tufted hemangiomas |
Kasabach Merritt think Konsuming Mass |
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Name this syndrome: liver hemangiomas leading to high output CHF along wiht multiple generalized hemangiomas |
diffuse neonatal hemangiomas |
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Name this syndrome: -coarctation of the aorta - posterior fossa malformation |
PHACES posterior fossa malformation, hemangiomas, arterial anomalities, cardiac anomalies, eye anomalies, sternal clefting/supraumbilical raphae |
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What is buphthalmos? |
infantile glaucoma, a/w sturge weber |
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What is phlebectasias? |
dilation of veins- a/w cutis marmorata telangiectatica congenita |
