Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

7th > Chapter 147- Vascular malformation II > Flashcards

Chapter 147- Vascular malformation II Flashcards

1
Q

Most common complication of lymphatic anomalies in 20% of cases

A

Infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Macro cystic LM can be diagnosed in utero as early as the ___ trimester of pregnancy

A

First

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Most LMs are diagnosed during ___

A

Infancy, before the age of 2 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Localized morphogenic errors of lymphatic vessels

A

Lymphatic malformations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Condition wherein lymph fluid accumulates the interstitial tissue

A

Primary lymphedema

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Primary lymphedema can be divided into

A 
Congenital (Milroy disease)
Late onset (Meige disease)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

It is a combined capillary-venous-lymphatic malformation associated with hypertrophy of the the affected limb

A

Klippel Trenaunay syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

It is characterized by geographic widespread CM associated with lymphatic vesicles

A

Klippel-Trenaunay syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Pathognomonic for Klippel Trenaunay syndrome

A

Persistence of embryonic vein located on the lateral side of the thigh

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

CLOVES is an eponym for

A

Congenital Lipomatous Overgrowth with Vascular malformation, Epidermal nevi, and Skeletal anomalies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

It is characterized by progressive asymmetric hypertrophy, multiple truncal lipomatous masses with parasoibal fast flow or slow flow vascular anonalies, epidermal nevus or nevi, acral lesions, and skeletal or spinal anomalies

A

CLOVES syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Rare condition in which LMs can invade several organs such as mediastinum, lungs, pleura, GIT, bones, and soft tissue (pleura effusion, ascites, malabsorption)

A

Generalized Lymphatic Anomaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Aggressive rare lymphatic disorder characterized by progressive demineralization and destruction of bones, which are replaced by lymphatic vessels and capillaries; characterized by painful pathological fractures

A

Gorham-Stout syndrome or vanishing bone disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Microcysts <1cm are previously termed as ___; ill-defined and often invade adjacent structures

A

Lymphangioma circumscriptum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Macrocysts >1 cm in diameter are previously termed as ___; soft, well-defined, multilobulated mass

A

Cystic hygroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Capillary- lymphatic malformation, pink- to - bluish red in color, slightly raised, hyperkeratotic, located on an extremity

A

Angiokeratoma circumscriptum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Circumscribed, dark red, hyperkeratotic plaques on distal extremities

A

Angiokeratoma of Mibelli

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Very common hyperkeratotic blue black papules on the scrotum of elderly men

A

Angiokeratoma of Fordyce

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Present at birth, with swelling of bilateral dorsum of feet; with family history of lymphedema

A

Milroy disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Other features associated with congenita lymphedema

A 
(37%) hydrocele
(23%) prominent veins
(14%) upslanting toenails
(10%) papillomatosis
(4%) urethral abnormalities in males
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Major complication of Klippel Trenaunay syndrome

A

Cellulitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Pulmonary embolism can occur in

A 
Klippel Trenaunay syndrome (persistent embryonic vein)
CLOVES syndrome (ectatic thoracic vein)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Visceral LM can cause (2)

A

Protein losing enteropathy

Hypoalbuminemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Most commonly associated with microcystic LM

A

Facial asymmetry esp. of mandible

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Lymphatic malformations (KTS, CLOVES) are caused by mutations in
PI3K/AKT/mTor signaling pathway
26
Milroy disease, as well as sporadic hydrops fetalis and generalized subcutaneous edema, is caused by loss-of-function mutation in
VEGFR3
27
Lymphedema distichiasis is caused loss of function mutation in
FOXC2 transcription factor
28
Lymphedema associated with microcephaly, with or without chorioretinopathy or developmental delay is caused by mutation in
KIF11
29
Hypotrichosis-lymphedema-telangiectasia is AD-AR mutation caused by mutations in
SOX18
30
Emberger syndrome is caused by mutations in
GATA2
31
It is an AR disorder characterized by generalized lymphatic dysplasia characterized by intestinal lymphangiectasia with severe and progressive lymphedema of limbs, genitalia, and the face
Hennekam syndrome
32
Hennekam syndrome is caused by mutations in
CCBE1
33
Specific lymphatic markers
Podoplanin D2-40 VEGR3
34
Histologically 1. Single or multiple lymphatic cysts surrounded by a thick fibrous membrane that do not communicate with each other 2. Abnormalities in primary peripheral lymphatic capillaries, collecting lymphatic vessels, or lymphatic valves, and lymphovenous valves 3. Dilated, flat, endothelium-lined channels of variable wall thickness 4. No blood cells are seen in these spaces 5. Extensive fibrosis is often present
1. Macrocystic LM 2,5. Lymphedema 3,4. Lymphatic malformations
35
Best study to show bone involvement
CT
36
For CLOVES, ff up every ___ is warranted due to progressive overgrowth during infancy
6 months
37
In contrast to VM, LM are
Noncompressible
38
In cases of vulvar involvement, it is important to rule out acquired lymphangiectasia caused by
Radiotherapy | Crohn disease
39
Most likely DDx of lymphatic malformation
Infantile hemangioma
40
Regression is commonly seen post ___ due to ____
Infection; postinflammatory autosclerosis
41
Gorham-Stout syndrome is lethal in ___%
16
42
Patients with KTS or CLOVES need preTx of ___ before any surgery and continued ___ postop to reduce risk of pulmonary embolism
LMWH of 100 anti-Xa/kg/day; 10-30 days
43
For extensive LMs resistant to standard treatment
Rapamycin
44
Lymphedema is best treated with (3)
Elastic stockings Massage Pneumatic compression devices
45
Treat dermal LMs with oozing
NdYAG laser or carbon dioxide laser photocoagulation
46
Examples of sclerosing agents
``` STS Pure ethanol OK432 (streptococcus pyogenes: picbanil) Doxycycline Bleomycin ```
47
Extract from a killed strain of Streptococcus pyogenes
OK432
48
Congenital, fast flow malformations that can be occult until puberty
Arteriovemous malformation
49
Most severe and devastating malformation that is difficult to treat
AV malformation | AV fistula
50
It is characterized by the presence of a nidus, epicenter of a lesion composed of direct communications between multiple feeding arteries and draining veins
AV malformation
51
Autosomal dominant disorder with spontaneous recurrent epistasis, telangiectasia, hepatic or pulmonary AVMs
Hereditary Hemorrhagic Telangiectasia
52
Hereditary Hemorrhagic Telangiectasia has the Curacao triad:
1. Multiple cutaneous and mucosal telangiectases, often on the mucosal lip 2. Epistaxis 3. Positive family history
53
In ___% of HHT, they present with spontaneous recurrent epistaxis
90%
54
In 30% of HHTs, they present with ___
Hepatic, pulmonary, cerebral AVM
55
Initial manifestation of HHT
Recurrent epistaxis
56
Patients are at higher risk for stroke and brain abscess due to normal filtering function of lung is lost
HHT
57
The prevalence of brain AVM is ___ fold higher in patients with HHT1; and ___fold in patients with HHT2
1000 | 100
58
HHT is caused by alterations in ___ signaling pathway
TGFB
59
Genes mutated in HHT1; HHT2
Endoglin (ENG); Type III TGFB | ACVRL1 (ALK1); Type 1 TGFB
60
Successfully used to reduce the frequency and duration of nosebleeds in HHT
Thalidomide
61
It is a sporadic, syndromic AVM located in the centrofavial, hemifacial area with oculo-orbital and cerebral involvement
Bonnet-Dechaume-Blanc | Wyburn- Mason
62
Intracerebral AVMs are common with epistaxis, exophthalmos, hemianopia, and mental retardation
Bonnet-Dechaume- Blanc | Wyburn- Mason
63
Sporadic, syndromic AVM that associates cutaneous and spinal cord AVMs of the same metamere
Cobb syndrome
64
It manifests in childhood with sudden onset of back or lower extremity pain associated with sensory disturbance
Cobb syndrome
65
It is a large, congenital, cutaneous red vascular stain on an extremity in association with soft tissue and skeletal hypertrophy of the affected limb and underlying multiple AV microfistulas
Parkes Weber syndrome
66
Treatment to control leg length discrepancy of Parkes Weber syndrome
Epiphysiodesis
67
It is an autosomal dominant disorder that includes patients with macrocephaly, penile freckling, multiple developmental venous anonalies in the brain, multifocal fast flow VMs, and increased risk of malignancy
Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome
68
Syndromes associated with Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome
Bannayan-Riley-Ruvalcaba | Cowden syndrome
69
Cutaneous, faint, red to purple, ill-defined masses with a thrill, a bruit, or a pulsation of increased amplitude
AV malformations
70
1/3 of AVMs are present at __; 1/3 at ___; the rest at
At birth At childhood or puberty In adulthood d/t trauma and hormonal changes
71
70% of AVMs occur in
Face
72
Schobinger stage classification:
1- red stain with bruit and pulses of increased amplitude 2 - prominent and tortuous veins 3 - darker, painful veins which ulcerate and bleed 4 - cardiac failure
73
In ___% of CM-AVM1, and ___% of CMAVM2, ak intracerebral or intraspinal AVM is present
23% | 13%
74
Patients with CM-AVM can exhibit intrauterine life threatening intracerebral bleeding due to ___ aneurysmal malformation
Vein of Galen
75
Sporadic extracranial AVMs are caused by somatic mutations of
MAP2K1 (MEK)
76
Brain AVM is caused by mutaion in
KRAS
77
__ determines the extent of AVM and differentiate AVMs from hemagiomas
MRI
78
Pathognomonic for AVM
Flow voids
79
Dx modality needed to determine nidus before starting any Tx
Arteriography
80
Can differentiate between slow flow CM vs fast flow AVM
Dopller ultrasonography
81
Mismanagement of AVM can lead to __
Amputation
82
Focus of management of AVM
Control evolution of malformation rather than cure
83
Synthetic matrix metalloproteinase inhibitor used to treat extensive AVMs with decrease in pain, bruits
Marimastat
84
It is used in unresectable stage 3 AVMs
Thalidomide
85
Done only in unresectable complicated AVM
Superselective embolization
86
AVf is usually the result of
Trauma
87
There is no risk of visceral AVM in
CM-AVM
88
10-15% of CM-AVM have __ phenotype affecting LE or UE
Parkes Weber phenotype
89
Common feature of facial AVM
Bony hypertrophy
90
PTEN regulates __ activity
PI3K-AKT pathway
91
___ have equatorial feeding arteries and peripheral veins but no true AV shunting
Hemangiomas
92
Embolization is only curative for
AV fistula
93
Ff up for __ years is mandatory after any Tx of AVM with Doppler or MRI
5 years
94
Done in unresectable, complicated AVM
Super selective embolization
95
Ligature of __ stimulates recruitment of new feeding arteries and expands the malformation
Proximal arteries

7th (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions