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96 Cards in this Set

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How are Vascular anomalies divided?
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
How are Vascular malformations different than vascular tumors WRT Gender prevalence, Natural History, Pathology, Immunophenotype, Hematology
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
Name the some Capillary Malformations?
Port wine stains
Telangiectasias
Nevus flammeus
What two syndromes have capillary malformations
HHT
Sturge-Weber
Occult spinal dysraphisms must be ruled out in what setting?
midline PWS
Name the types and assoc of Phakomatosis Pigmentovascularis?
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)
What does "Subtype a" designate in Phakomatosis Pigmentovascularis?
Only skin anomalies are seen
What does "Subtype b" designate in Phakomatosis Pigmentovascularis?
Subtype b = skin + systemic abnormalities (intracranial/visceral vascular anomalies, ocular abnormalities, choroidal melanoma, hemihypertrophy)
Name the Phakomatosis Pigmentovascularis that has: CM + epidermal nevus
Type I
Name the Phakomatosis Pigmentovascularis that has:
CM + Mongolian spots + nevus anemicus
Type II -- MC form -- 85%
Name the Phakomatosis Pigmentovascularis that has:
CM + nevus spilus + nevus anemicus
Assoc w/ multiple granular cell tumors
Type III
Name the Phakomatosis Pigmentovascularis that has:
CM + Mongolian spots + nevus spilus + nevus anemicus
Type IV
Name the Phakomatosis Pigmentovascularis that has:
CM + CMTC + Mongolian spots
Type V
Name the most common form of Phakomatosis Pigmentovascularis
Type II
Name the Phakomatosis Pigmentovascularis that has:
Assoc w/ multiple granular cell tumors
Type III
What are the major findings in Sturge Weber syndrome?
Facial PWS (V1 -- forehead, upper eyelid)
Ipsilateral ocular involvement (Buphthlamos (congenital glaucoma)

Ipsilateral leptomeningeal changes:
CVM in pia mater
MC in occipital region
Seizures
What is Buphthalmos?
Congenital glaucoma -- seen in Sturge Weber
CVMs in the pia mater seen in what dz?
Sturge Weber syndrome
Developmental delay
Contralateral hemiplegia, hemiparesis
Migraines
Attention deficit

Neurologic findings that are sometimes seen in what?
Sturge Weber Syndrome
"Tram-track" calcifications, Cerebral atrophy, convoluted calcifications in what d/o?
Sturge-Weber syndrome (Leptomeningeal CVM)
What % of infants with V1 have PWS?
10-15%
What types of PWSs have increased risk of Sturge-Weber?
If V1, 2, and 3 are involved
If Bilateral Involvement is seen
Name the dz w/ Classic triad:
CM
Venous/lymphatic malformation
Limb hypertrophy
Klippel-Trenaunay Syndrome
What is the classic triad seen in Klippel-Trenaunay syndrome?
Classic triad:
CM
Venous/lymphatic malformation
Limb hypertrophy
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
What syndrome can have the following:
Lytic bone lesions
CHF w/ hemodynamically significant AVM
Parkes-Weber syndrome
Prognosis for Parkes-Weber Syndrome?
Poor prognosis after puberty
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
% of venous thromboembolisim in Klippel-Trenaunay & Parkes-Weber
22%
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
Name the disorder:
Asymmetrical gigantism of extremities & digits
Proteus Syndrome
Name the disorder:
Cerebriform connective tissue nevus of palms & soles
Proteus Syndrome
Benign hamartomatous lesions (lipomas, epidermal nevi)
Proteus Syndrome
Name some clinical findings of Proteus Syndrome
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)
Mutation found in Proteus Syndrome
PTEN gene
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)
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
Name the dz:
Cutaneous vascular syndrome w/ reticulated pattern that persists after re-warming
Cutis Marmorata Telangiectatica Congenita
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)
In the diffuse form of CMTC, what other abnormalities can be seen (up to 50% of cases)?
Limb hypoplasia on affected side
Ocular: glaucoma, retinal pigmentation or detachment
Neuro: macrocephaly, sz, hydrocephalus, psychomotor retardation
What is Adams-Oliver Syndrome?
CMTC
Distal transverse limb defects
Aplasia cutis congenita (scalp)
Eponym for Hereditary Hemorrhagic Telangiectasia?
Osler-Weber-Rendu
What dz has Inheritance & Gene defects:
AD; endoglin & ALK1;
TGF-beta receptors expressed by vascular endothelium
HHT
Name the defect and gene in HHT?
Inheritance & Gene defects?
AD; endoglin (ENG, HHT1) & ALK1 (HHT2)
TGF-beta receptors expressed by vascular endothelium
What are some common clinical findings in HHT?
Epistaxis
Mat-like & papular telangectasias on face, lips, tongue, palms, fingers
GI/GU tract hemorrhage &/or iron deficiency anemia
Eponym for Ataxia Telangiectasia
Louis-Barr syndrome
Inheritance and Gene Defect in Louis-Barr syndrome?
Ataxia telangiectasia:
ATM (AR)
Initial presenting symptom in Louis-Barr syndrome?
Ataxia
(aka Ataxia telangiectasia)
In Ataxia Telangiectasia, where do the telangiectasias normall appear?
usu appear after age 4-5, most commonly on bulbar conjunctiva (also on face and ears)
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
Name the types of angiokeratomas
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)
These capillary malformations may be seen on the surface of CM in KTS
Angiokeratomas
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
Name the disease:
Accumulation of globotriaosylceramide (ceramide trihexidose)
Fabry's disease
Name the disease:
alpha-galactosidase A deficiency
Fabry's disease
What is the best way to evaluate a Venous Malformation?
T2 weighted MRI
How would you treat cephalic VMs?
Sclerotherapy
Surgical Excision
What sclerotherapy agent could you use to treat limb VMs?
- Pure Ethanol

- Ethibloc (zein, sodium amidotrizoate, oleum papveris, propylene glycol, ethanol)
Name the syndromes associated with VMs
Familial Cutaneous & Mucosal Venous Malformation (CMVM)

Blue rubber bleb nevus syndrome (BEAN syndrome)

Maffucci Syndrome

Glomangiomas & Familial Glomangiomatosis
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)
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)
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
Mutation in Maffucci Syndrome
Rare, sporadic
PTH/PTHrP mutation
Clincal picture in Maffucci syndrome
VM’s (MC on extremities) + enchondromas
Risk of malignant transformation to chondrosarcoma
Spindle cell hemangioma
w/ VM on histo
Mutation in: CMVM
AD
TEK gene "gain of function"
Activation of tyrosine kinae receptor (TIE2/TEK)
Mutation in Bean Syndrome
Sporadic
Clinical findings in Familial Cutaneous & Mucosal venous malformation
Multiple lesions: skin, oral mucosa, muscles
No intestinal VM’s as in Bean syndrome
Clincal findings in Blue Rubber bleb nevus syndrome
Widely distributed dark blue papules/nodules
Skin colored compressible nodules
GI VM’s→hemorrhage, iron deficiency anemia
CNS, lung, heart involvement less common
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
Eponym for Glomangiomas & Familial Glomangiomatosis
Glomuvenous malformations
Describe Clinical findings in Glomangiomas & Familial Glomangiomatosis
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
What gene is associated with
Glomangiomas & Familial Glomangiomatosis?
Glomangiomas & Familial Glomangiomatosis:
New name: glomuvenous malformations

GLMN (AD) encoding glomulin
Name the two types of congential Lymphedema
Milroy disease (congenital, type I):
FLT4 mutation (encoding VEGFR3)

Meige lymphedema (late-onset, type II):
FOXC2 gene (forkhead family transcription factor C2)
Name the disease that has:
FLT4 mutation (encoding VEGFR3)
Milroy Disease (congenital lymphedema, type I)
Name the disease that has:

FOXC2 gene (forkhead family transcription factor C2) mutation
Meige lymphedema (late-onset, congenital lymphedema, type II)
Besides congenital lymphedema, Lymphedema is also seen in two other syndromes
Turner Syndrome
Noonan Syndrome
Lymphatic malformations are due to what change in the lymphatics?
Hyperplasia
(vs. lymphedema which is due to aplasia or hypoplasia of the lymphatics; can be congenital or acquired)
Another name for Macrocystic LMs? where are they found?
aka cystic hygromas
MC on neck, axilla, lateral chest wall
What Dz are assoc with hygromas?
Downs
Turners
Noonan
what is another name for Microcystic Lymphatic malformations?
Lymphangioma circumscriptum
What complications can arise from lymphatic malformations?
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
Treatment options for Lyphatic malformations?
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
What is the MC location for AV malformation?
cephalic (70%)
Is there a gender prevalence in AV Malformations?
No
What % of AV malformations are congenital?
40%, visible at birth
What are some things that may worsen an AV Malformation?
Puberty
Pregnancy
Trauma
What is the staging system for AV Malformations?
Schobinger’s Staging:
1. Dormant – mimics PWS
2. Expansion – throbbing/thrills
3. Destruction – necrosis, ulcer, hemorrhage
4. Cardiac decompensation with stage 2 or 3
Where are AVMs commonly located?
What are the syndromes associated with AVMs?
Cobb Syndrome
Parkes-Weber syndrome
Bonnet-Dechaume-Blanc (Wyburn-Mason's)
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
Describe Cobb Syndrome
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
Name the d/o:
Multiple limb AVMs w/ Limb overgrowth
Parkes-Weber Syndrome
Another name for Bonnet-Dechaume-Blanc
Wyburn-Mason's
Name the d/o:
AVM w/ centrofacial, retinal & brain involvement
Brain AVM asymptomatic or causes sz, hemiparesis
Bonnet-Dechaume-Blanc (aka Wyburn Masons')
Describe findings in Bonnet-Dechaume-Blanc Syndrome
AVM w/ centrofacial, retinal & brain involvement
Brain AVM asymptomatic or causes sz, hemiparesis
How would you treat an AV Malformation?
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