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96 Cards in this Set
- Front
- Back
How are Vascular anomalies divided?
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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 |
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How are Vascular malformations different than vascular tumors WRT Gender prevalence, Natural History, Pathology, Immunophenotype, Hematology
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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 |
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Name the some Capillary Malformations?
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Port wine stains
Telangiectasias Nevus flammeus |
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What two syndromes have capillary malformations
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HHT
Sturge-Weber |
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Occult spinal dysraphisms must be ruled out in what setting?
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midline PWS
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Name the types and assoc of Phakomatosis Pigmentovascularis?
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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) |
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What does "Subtype a" designate in Phakomatosis Pigmentovascularis?
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Only skin anomalies are seen
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What does "Subtype b" designate in Phakomatosis Pigmentovascularis?
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Subtype b = skin + systemic abnormalities (intracranial/visceral vascular anomalies, ocular abnormalities, choroidal melanoma, hemihypertrophy)
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Name the Phakomatosis Pigmentovascularis that has: CM + epidermal nevus
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Type I
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Name the Phakomatosis Pigmentovascularis that has:
CM + Mongolian spots + nevus anemicus |
Type II -- MC form -- 85%
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Name the Phakomatosis Pigmentovascularis that has:
CM + nevus spilus + nevus anemicus Assoc w/ multiple granular cell tumors |
Type III
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Name the Phakomatosis Pigmentovascularis that has:
CM + Mongolian spots + nevus spilus + nevus anemicus |
Type IV
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Name the Phakomatosis Pigmentovascularis that has:
CM + CMTC + Mongolian spots |
Type V
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Name the most common form of Phakomatosis Pigmentovascularis
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Type II
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Name the Phakomatosis Pigmentovascularis that has:
Assoc w/ multiple granular cell tumors |
Type III
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What are the major findings in Sturge Weber syndrome?
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Facial PWS (V1 -- forehead, upper eyelid)
Ipsilateral ocular involvement (Buphthlamos (congenital glaucoma) Ipsilateral leptomeningeal changes: CVM in pia mater MC in occipital region Seizures |
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What is Buphthalmos?
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Congenital glaucoma -- seen in Sturge Weber
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CVMs in the pia mater seen in what dz?
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Sturge Weber syndrome
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Developmental delay
Contralateral hemiplegia, hemiparesis Migraines Attention deficit Neurologic findings that are sometimes seen in what? |
Sturge Weber Syndrome
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"Tram-track" calcifications, Cerebral atrophy, convoluted calcifications in what d/o?
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Sturge-Weber syndrome (Leptomeningeal CVM)
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What % of infants with V1 have PWS?
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10-15%
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What types of PWSs have increased risk of Sturge-Weber?
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If V1, 2, and 3 are involved
If Bilateral Involvement is seen |
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Name the dz w/ Classic triad:
CM Venous/lymphatic malformation Limb hypertrophy |
Klippel-Trenaunay Syndrome
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What is the classic triad seen in Klippel-Trenaunay syndrome?
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Classic triad:
CM Venous/lymphatic malformation Limb hypertrophy |
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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 |
Parkes-Weber Syndrome
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What syndrome can have the following:
Lytic bone lesions CHF w/ hemodynamically significant AVM |
Parkes-Weber syndrome
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Prognosis for Parkes-Weber Syndrome?
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Poor prognosis after puberty
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What disorders have the following complications?
Venous thromboembolism in up to 22% (check D-dimers) Coagulopathy Pulmonary embolism Stasis dermatitis Leg ulcers Bleeding |
Klippel-Trenaunay & Parkes-Weber
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% of venous thromboembolisim in Klippel-Trenaunay & Parkes-Weber
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22%
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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) |
Proteus Syndrome
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Name the disorder:
Asymmetrical gigantism of extremities & digits |
Proteus Syndrome
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Name the disorder:
Cerebriform connective tissue nevus of palms & soles |
Proteus Syndrome
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Benign hamartomatous lesions (lipomas, epidermal nevi)
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Proteus Syndrome
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Name some clinical findings of Proteus Syndrome
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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) |
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Mutation found in Proteus Syndrome
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PTEN gene
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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 |
Angioma Serpiginosum (Hutchinson Type)
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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 |
Unilateral Nevoid Telangiectasia
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Name the dz:
Cutaneous vascular syndrome w/ reticulated pattern that persists after re-warming |
Cutis Marmorata Telangiectatica Congenita
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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 |
Cutis Marmorata Telangiectatica Congenita (CMTC)
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In the diffuse form of CMTC, what other abnormalities can be seen (up to 50% of cases)?
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Limb hypoplasia on affected side
Ocular: glaucoma, retinal pigmentation or detachment Neuro: macrocephaly, sz, hydrocephalus, psychomotor retardation |
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What is Adams-Oliver Syndrome?
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CMTC
Distal transverse limb defects Aplasia cutis congenita (scalp) |
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Eponym for Hereditary Hemorrhagic Telangiectasia?
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Osler-Weber-Rendu
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What dz has Inheritance & Gene defects:
AD; endoglin & ALK1; TGF-beta receptors expressed by vascular endothelium |
HHT
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Name the defect and gene in HHT?
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Inheritance & Gene defects?
AD; endoglin (ENG, HHT1) & ALK1 (HHT2) TGF-beta receptors expressed by vascular endothelium |
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What are some common clinical findings in HHT?
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Epistaxis
Mat-like & papular telangectasias on face, lips, tongue, palms, fingers GI/GU tract hemorrhage &/or iron deficiency anemia |
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Eponym for Ataxia Telangiectasia
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Louis-Barr syndrome
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Inheritance and Gene Defect in Louis-Barr syndrome?
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Ataxia telangiectasia:
ATM (AR) |
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Initial presenting symptom in Louis-Barr syndrome?
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Ataxia
(aka Ataxia telangiectasia) |
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In Ataxia Telangiectasia, where do the telangiectasias normall appear?
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usu appear after age 4-5, most commonly on bulbar conjunctiva (also on face and ears)
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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 |
Ataxia Telangiectasia
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Name the types of angiokeratomas
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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) |
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These capillary malformations may be seen on the surface of CM in KTS
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Angiokeratomas
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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 |
Mutation in CCM1 encoding KRIT-1
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Name the disease:
Accumulation of globotriaosylceramide (ceramide trihexidose) |
Fabry's disease
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Name the disease:
alpha-galactosidase A deficiency |
Fabry's disease
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What is the best way to evaluate a Venous Malformation?
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T2 weighted MRI
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How would you treat cephalic VMs?
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Sclerotherapy
Surgical Excision |
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What sclerotherapy agent could you use to treat limb VMs?
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- Pure Ethanol
- Ethibloc (zein, sodium amidotrizoate, oleum papveris, propylene glycol, ethanol) |
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Name the syndromes associated with VMs
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Familial Cutaneous & Mucosal Venous Malformation (CMVM)
Blue rubber bleb nevus syndrome (BEAN syndrome) Maffucci Syndrome Glomangiomas & Familial Glomangiomatosis |
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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 |
Familial cutaneous & mucosal venous malformation (CMVM)
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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 |
Blue rubber bleb nevus syndrome (Bean syndrome)
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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 |
Maffucci Syndrome
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Mutation in Maffucci Syndrome
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Rare, sporadic
PTH/PTHrP mutation |
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Clincal picture in Maffucci syndrome
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VM’s (MC on extremities) + enchondromas
Risk of malignant transformation to chondrosarcoma Spindle cell hemangioma w/ VM on histo |
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Mutation in: CMVM
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AD
TEK gene "gain of function" Activation of tyrosine kinae receptor (TIE2/TEK) |
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Mutation in Bean Syndrome
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Sporadic
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Clinical findings in Familial Cutaneous & Mucosal venous malformation
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Multiple lesions: skin, oral mucosa, muscles
No intestinal VM’s as in Bean syndrome |
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Clincal findings in Blue Rubber bleb nevus syndrome
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Widely distributed dark blue papules/nodules
Skin colored compressible nodules GI VM’s→hemorrhage, iron deficiency anemia CNS, lung, heart involvement less common |
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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 |
Glomangiomas & Familial Glomangiomatosis:
New name: glomuvenous malformations |
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Eponym for Glomangiomas & Familial Glomangiomatosis
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Glomuvenous malformations
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Describe Clinical findings in Glomangiomas & Familial Glomangiomatosis
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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 |
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What gene is associated with
Glomangiomas & Familial Glomangiomatosis? |
Glomangiomas & Familial Glomangiomatosis:
New name: glomuvenous malformations GLMN (AD) encoding glomulin |
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Name the two types of congential Lymphedema
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Milroy disease (congenital, type I):
FLT4 mutation (encoding VEGFR3) Meige lymphedema (late-onset, type II): FOXC2 gene (forkhead family transcription factor C2) |
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Name the disease that has:
FLT4 mutation (encoding VEGFR3) |
Milroy Disease (congenital lymphedema, type I)
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Name the disease that has:
FOXC2 gene (forkhead family transcription factor C2) mutation |
Meige lymphedema (late-onset, congenital lymphedema, type II)
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Besides congenital lymphedema, Lymphedema is also seen in two other syndromes
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Turner Syndrome
Noonan Syndrome |
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Lymphatic malformations are due to what change in the lymphatics?
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Hyperplasia
(vs. lymphedema which is due to aplasia or hypoplasia of the lymphatics; can be congenital or acquired) |
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Another name for Macrocystic LMs? where are they found?
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aka cystic hygromas
MC on neck, axilla, lateral chest wall |
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What Dz are assoc with hygromas?
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Downs
Turners Noonan |
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what is another name for Microcystic Lymphatic malformations?
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Lymphangioma circumscriptum
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What complications can arise from lymphatic malformations?
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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 |
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Treatment options for Lyphatic malformations?
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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 |
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What is the MC location for AV malformation?
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cephalic (70%)
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Is there a gender prevalence in AV Malformations?
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No
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What % of AV malformations are congenital?
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40%, visible at birth
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What are some things that may worsen an AV Malformation?
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Puberty
Pregnancy Trauma |
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What is the staging system for AV Malformations?
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Schobinger’s Staging:
1. Dormant – mimics PWS 2. Expansion – throbbing/thrills 3. Destruction – necrosis, ulcer, hemorrhage 4. Cardiac decompensation with stage 2 or 3 |
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Where are AVMs commonly located?
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What are the syndromes associated with AVMs?
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Cobb Syndrome
Parkes-Weber syndrome Bonnet-Dechaume-Blanc (Wyburn-Mason's) |
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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 |
Cobb syndrome
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Describe Cobb Syndrome
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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 |
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Name the d/o:
Multiple limb AVMs w/ Limb overgrowth |
Parkes-Weber Syndrome
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Another name for Bonnet-Dechaume-Blanc
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Wyburn-Mason's
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Name the d/o:
AVM w/ centrofacial, retinal & brain involvement Brain AVM asymptomatic or causes sz, hemiparesis |
Bonnet-Dechaume-Blanc (aka Wyburn Masons')
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Describe findings in Bonnet-Dechaume-Blanc Syndrome
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AVM w/ centrofacial, retinal & brain involvement
Brain AVM asymptomatic or causes sz, hemiparesis |
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How would you treat an AV Malformation?
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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 |