22 - 147 - VASCULAR MALFORMATIONS

Question 1

The following are syndromic disorders of capillary malformation except ______ .

A. Phakomatosis pigmentovascularis

B. Sturge-Weber Syndrome

C. Diffuse capillary malformation with overgrowth

D. Microcephaly-capillary malformation

Answer 1

D

Question 2

Which of the following describes venous malformation?

A. Red

B Flat to raised

C. Ulceration

D. D2-40 positive

Answer 2

B

Question 3

What is the gold standard therapy for capillary malformation?

A. Propanolol

B. Laser therapy

C. Watchful waiting

D. Excision

Answer 3

B

Question 4

50% of venous malformations are found on the __________ .

A. Lower extremities

B. Lumbosacral area

C. Upper extremities

D. Cervicofacial area

Answer 4

D

Question 5

__________ is commonly characterized by one large “dominant” VM lesion associated with multiple small, dark blue, nipple-like lesions, the latter being typically located on the palm and soles .

A. SWS

B. KTS

C. BRBN

D. Mafucci syndrome

Answer 5

C

Question 6

What syndrome has a pathognominic sign of persistence of a persistent embryonic vein located on the lateral side of the thigh?

A. Klippel-Trenaunay

B. CLOVES

C. Generalized lymphatic anomaly

D Gorham-Stout

Answer 6

A

Question 7

Which of the following is pathognomonic of AVM?

A Presence of a mass on imaging

B. Tortous vessels on ultrasonography

C. Aggregation of high-velocity arterial and pulsatile venous flow with low resistance on color Doppler

D Flow voids on MRI

Answer 7

D

Question 8

Vascular malformations are believed to arise because of errors in the development of vessels that occur during the what weeks of intrauterine life?

Answer 8

4th to 10th weeks

Question 9

slow flow vascular malformations

Answer 9

capillary, lymphatic, venous, and combined

Question 10

fast flow vascular malformations

Answer 10

arterial, arteriovenous, and combined

Question 11

Question 12

Congenital, slow-flow malformations of the capillary bed

Answer 12

CAPILLARY MALFORMATIONS

Question 13

Name syndromes where capillary malformation can be a manifestation

Answer 13

• Sturge-Weber syndrome (SWS)
• Klippel-Trenaunay syndrome (KTS)
• phakomatosis pigmentovascularis (PPV)
• Parkes Weber syndrome,
• CLOVES syndrome,
• PTEN (phosphatase and tensin homolog) Hamartoma tumor syndrome,
• diffuse capillary malformation with overgrowth (DCMO),
• macrocephaly–capillary malformation (M-CM, also called megalencephaly–capillary malformationpolymicrogyria syndrome)

Question 14

commonly called port-wine stain

Answer 14

Capillary malformation

Question 15

Although most often an isolated finding, in rare instances, CM can be the cutaneous hallmark of _________________ especially if located in the lumbosacral area.

Answer 15

occult spinal dysraphism,

Question 16

often confused with CM. They are located on the nape of the neck (81%), the eyelids (45%), or the glabella (33%)

Answer 16

stork bite, angel’s kiss, salmon patch, nevus simplex, or nevus flammeus neonatorum

Question 17

nevus simplex on the occiput

Answer 17

Unna nevus

Question 18

nevus simplex can be present in what syndromes?

Answer 18

Beckwith-Wiedemann and Rubinstein-Taybi syndromes

Question 19

how can you differentiate nevus simplex from true capillary malformation?

Answer 19

They disappear spontaneously around the age of 1 to 4 years.

• In contrast, true CMs are present at birth and never regresses spontaneously. They persist lifelong.
• During the first weeks of life, they can slightly fade, as the hemoglobin level of the newborn decreases.
• Subsequently, the red hue stabilizes, and the lesion grows in proportion to the rest of the body.
• Around puberty, as well as later in life, CM slowly thickens and darkens with time.
• It often becomes raised and nodular

Question 20

It manifests as a large, metameric CMs, usually located on the trunk or the extremities, in association with **pigmented cutaneous lesions, **such as a pigmented nevus, a nevus spilus, a café-au-lait patch, or an atypical Mongolian spot that is not located on the sacrum

*photo: A large metameric capillary malformation with atypical extensive dermal melanocytosis located on the back.

Answer 20

PHAKOMATOSIS PIGMENTOVASCULARIS

Question 21

capillary malformation can be part of SWS when located in what area?

Answer 21

frontopalpebral area

Question 22

• This neuro-oculo-cutaneous syndrome associates a cutaneous CM of the ophthalmic branch of the trigeminal nerve (V1) with a homolateral leptomeningeal capillary-venous malformation (CVM) and a choroid CVM.
• Glaucoma is often present
• associated with a high risk of** epilepsy and mental retardation**

Answer 22

STURGE-WEBER SYNDROME

Question 23

• have hemihypertrophy, which can be total, regional, or contralateral. CM can be diffuse over the entire body.
• This entity is characterized by a reticulated, ill-defined CM

Answer 23

DIFFUSE CAPILLARY MALFORMATION WITH OVERGROWTH (DCMO)

Question 24

• A well-delineated, dark CM of the vermillion border, the tip of the nose, or both associated with macrocephaly is often pathognomonic
• These patients have megalencephaly and are at risk of mental retardation

Answer 24

MACROCEPHALY-CAPILLARY MALFORMATION

Question 25

SWS is associated with a high risk of what complications?

Answer 25

**epilepsy and mental retardation **because of anomalies of the venous drainage of the encephalon, as well as with **glaucoma**, buphthalmos, and sometimes retinal detachment

Question 26

When the child has atopic dermatitis, psoriasis, or acne, lesions are worse in the area of CM, what do you call this finding?

Answer 26

Meyerson phenomenon

Question 27

Question 28

Answer 28

CAPILLARY malformation

Question 29

Answer 29

venous malformation

Question 30

Answer 30

lymphatic malformation

Question 31

Answer 31

ARTERIOVENOUS malformation

Question 32

Question 33

* characterized by numerous malformations of the venous system that involve the skin and visceral organs. It is commonly characterized by **one large “dominant” VM lesion associated with multiple small, dark blue, nipple-like lesions**, the latter being typically located on the **palm and soles**

Answer 33

BLUE RUBBER BLEB NEVUS SYNDROME

Question 34

BRBN are associated with multiple small venous malformations in what organ system?

Answer 34

GI VMs *often responsible for chronic anemia

Question 35

* rare disorder characterized by multiple **enchondromas** associated with** subcutaneous VMs** of the distal extremities * The disease starts during **childhood** with the development of enchondromas of the bones of hands and feet, as well as of the long bones. * **Deformities and shortening** of extremities often occur. * **Subcutaneous vascular nodules** appear later, around **puberty**, on the fingers and the toes. * Phleboliths may become present.

Answer 35

MAFFUCCI SYNDROME

Question 36

The most common location of venous malformation

Answer 36

head and neck area

Question 37

* bluish to purple, raised venous anomaly characterized by multifocality, hyperkeratosis, and nodularity with a **cobblestone** surface * they are usually present at birth and slowly expand during childhood * often **painful** on palpation and cannot be completely emptied by compression * usually multifocal and located on the extremities, involving the skin and subcutis * normal mental and physical development

Answer 37

glomuvenous malformation

Question 38

Answer 38

venous malformation

Question 38

Question 39

Answer 39

VENOUS MALFORMATION CUTANEOMUCOSAL

Question 40

Answer 40

BLUE RUBBER BLEB NEVUS SYNDROME

Question 41

Venous malformation cutaneoumucosal (VMCM) is inherited as an autosomal dominant disorder caused by germline mutations in what gene?

Answer 41

TEK gene

Question 42

Glomuvevous Malformation (GVM) is caused by dominant, loss-of-function mutations in what gene?

Answer 42

glomulin gene

Question 43

pathognomonic of severe localized intravascular coagulopathy

Answer 43

low fibrinogen

Question 44

in radiography, these are pathognomonic of localized intravascular coagulopathy (LIC) in a VM

Answer 44

calcification of phleboliths

Question 45

primary treatment for Venous Malformation

Answer 45

Percutaneous intralesional sclerotherapy

Question 46

most efficient sclerosing agent for vascular malformation

Answer 46

absolute ethanol ## Footnote Alternatives to ethanol sclerotherapy are sodium tetradecyl-sulphate foam or lauromacrogol that are effective for small VMs and cause fewer local adverse effects.

Question 47

Histologically consist of dilated lymphatic channels with flat endothelium that expresses **D2-40.**

Answer 47

lymphatic malformation

Question 48

most common complication of lymphatic malformation that can lead to septicemia

Answer 48

Infection ## Footnote Recurrent cellulitis is the major complication, especially in patients with KTS, and it can evolve into septicemia if not promptly treated.

Question 49

* combined **capillary-lymphatic–venous malformation** associated with **hypertrophy** of the affected limb. * Lower limbs are affected in 70% of cases. * It is characterized by a geographic, **widespread CM** associated with lymphatic vesicles. * The **persistence of a persistent embryonic vein located on the lateral side of the thigh** is pathognomonic

Answer 49

Klippel-Trenaunay syndrome

Question 50

* eponym for congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal anomalies. * This nonhereditary disorder is characterized by progressive **asymmetric hypertrophy,** multiple truncal lipomatous masses with paraspinal fast-flow or slow-flow vascular anomalies (or both), epidermal nevus or nevi, acral lesions, and skeletal or spinal anomalies

Answer 50

Capillary–lymphatic–venous malformation of right lower extremity with soft tissue hypertrophy (CLOVES syndrome)

Question 51

an aggressive rare lymphatic disorder characterized by progressive **demineralization and destruction of bones, **which are **replaced** by **lymphatic vessels and capillaries**

Answer 51

Gorham-Stout syndrome, or “vanishing bone disease”

Question 52

* also known as capillary-lymphatic malformation (CLM) * combined, well-demarcated lesion often located on an extremity. * The lesion is pink to bluish-red in color, slightly raised, and usually hyperkeratotic

Answer 52

Angiokeratoma Circumscriptum

Question 53

LMs, as well as KTS and CLOVES syndrome, are caused by mosaic or somatic mutations in what gene?

Answer 53

PIK3CA gene

Question 54

This disease is suspected in the presence of** swelling of the dorsum of the feet **with a family history of **lymphedema**

Answer 54

Milroy disease

Question 55

* characterized by the presence of a “nidus,” the epicenter of the lesion that is composed of direct communications between multiple feeding arteries and draining veins without an intervening normal capillary bed * Most difficult vascular malformation to treat

Answer 55

ARTERIOVENOUS MALFORMATIONS

Question 56

* sporadic, syndromic AVM located in the **centrofacial or hemifacial area **(or both), with **oculo-orbital and cerebral involvement** * rarely follows a trigeminal distribution like SWS *** Intracerebral AVMs** are common * can cause epistaxis, exophthalmos, and hemianopia. * Mental retardation can also occur

Answer 56

Bonnet-Dechaume-Blanc or Wyburn-Mason syndrome

Question 57

* sporadic, syndromic AVM that associates** cutaneous and spinal cord** AVMs of the same metamere * The cutaneous lesion masquerades as a CM, although it is warm on palpation * manifests in **childhood** with a **sudden onset of back or lower extremity pain** associated with sensory disturbance

Answer 57

Cobb syndrome

Question 58

triad: 1. **multiple cutaneous and mucosal telangiectasias**, often located on the mucosal lip; 2. **epistaxis** - typically the initial manifestation 3. **positive family history**

Answer 58

HEREDITARY HEMORRHAGIC TELANGIECTASIA

Question 59

* characterized by 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 arteriolar-venular microfistulas** * The affected extremity, often the lower one, is longer and larger than the contralateral one. Although often sporadic, it can be part of CM-AVM.

Answer 59

PARKES WEBER SYNDROME

Question 60

* autosomal-dominant disorder that includes patients with Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome because 60% and 81% of them, respectively, have a mutation in **PTEN** * These patients typically have **macrocephaly**,** penile freckling**, multiple **developmental venous anomalies **in the brain, fastflow VMs (54%), and an increased risk of malignancy. * The VMs are often multifocal (57%) and musculoskeletal and associated with ectopic fat deposition and disruption of the normal tissue architecture

Answer 60

PHOSPHATASE AND TENSIN HOMOLOG HAMARTOMA TUMOR SYNDROME

Question 61

* usually manifest as cutaneous, faint, red to purple, ill-defined masses with a thrill, a bruit, or a pulsation of increased amplitude * They never regress spontaneously and get worse with time

Answer 61

AVMs

Question 62

trigger the growth of an AVM

Answer 62

puberty and trauma

Question 63

Seventy percent of AVMs are located on what areA?

Answer 63

head and neck

Question 64

Schobinger stage of AVM characterized by prominent and tortuous veins

Answer 64

Schobinger stage II

Question 65

Schobinger stage of AVM characterized by becoming subsequently** darker and painful, and they ulcerate and bleed.**

Answer 65

Schobinger stage III

Question 65

Schobinger stage of AVM characterized by cardiac failure

Answer 65

Schobinger stage IV

Question 65

Schobinger stage of AVM characterized by a **red stain with bruit and pulses of increased amplitude.**

Answer 65

Schobinger stage I

Question 66

typically the initial manifestation of hereditary hemorrhagic telangiectasia

Answer 66

Recurrent epistaxis

Question 67

imaging finding pathognomonic of AVM

Answer 67

**Flow voids,** corresponding to fast-flow vessels

Question 68

needed before any treatment of AVM to determine feeding arteries and the nidus

Answer 68

Arteriography

Question 69

the most complex and difficult vascular anomaly to treat.

Answer 69

AVM