22 - 147 - VASCULAR MALFORMATIONS Flashcards
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
D
Which of the following describes venous malformation?
A. Red
B Flat to raised
C. Ulceration
D. D2-40 positive
B
What is the gold standard therapy for capillary malformation?
A. Propanolol
B. Laser therapy
C. Watchful waiting
D. Excision
B
50% of venous malformations are found on the __________ .
A. Lower extremities
B. Lumbosacral area
C. Upper extremities
D. Cervicofacial area
D
__________ 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
C
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
A
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
D
Vascular malformations are believed to arise because of errors in the development of vessels that occur during the what weeks of intrauterine life?
4th to 10th weeks
slow flow vascular malformations
capillary, lymphatic, venous, and combined
fast flow vascular malformations
arterial, arteriovenous, and combined
Congenital, slow-flow malformations of the capillary bed
CAPILLARY MALFORMATIONS
Name syndromes where capillary malformation can be a manifestation
- 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)
commonly called port-wine stain
Capillary malformation
Although most often an isolated finding, in rare instances, CM can be the cutaneous hallmark of _________________ especially if located in the lumbosacral area.
occult spinal dysraphism,
often confused with CM. They are located on the nape of the neck (81%), the eyelids (45%), or the glabella (33%)
stork bite, angel’s kiss, salmon patch, nevus simplex, or nevus flammeus neonatorum
nevus simplex on the occiput
Unna nevus
nevus simplex can be present in what syndromes?
Beckwith-Wiedemann and Rubinstein-Taybi syndromes
how can you differentiate nevus simplex from true capillary malformation?
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
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.
PHAKOMATOSIS PIGMENTOVASCULARIS
capillary malformation can be part of SWS when located in what area?
frontopalpebral area
- 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**
STURGE-WEBER SYNDROME
- 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
DIFFUSE CAPILLARY MALFORMATION WITH OVERGROWTH (DCMO)
- 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
MACROCEPHALY-CAPILLARY MALFORMATION
SWS is associated with a high risk of what complications?
**epilepsy and mental retardation **because of anomalies of the venous drainage of the encephalon, as well as with glaucoma, buphthalmos, and sometimes retinal detachment
When the child has atopic dermatitis, psoriasis, or acne, lesions are worse in the area of CM, what do you call this finding?
Meyerson phenomenon
CAPILLARY malformation
venous malformation
lymphatic malformation
ARTERIOVENOUS malformation
- 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
BLUE RUBBER BLEB NEVUS SYNDROME
BRBN are associated with multiple small venous malformations in what organ system?
GI VMs
*often responsible for chronic anemia
- 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.
MAFFUCCI SYNDROME
The most common location of venous malformation
head and neck area
- 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
glomuvenous malformation
venous malformation
VENOUS MALFORMATION CUTANEOMUCOSAL
BLUE RUBBER BLEB NEVUS SYNDROME
Venous malformation cutaneoumucosal (VMCM) is inherited as an autosomal dominant disorder caused by germline mutations in what gene?
TEK gene
Glomuvevous Malformation (GVM) is caused by dominant, loss-of-function mutations in what gene?
glomulin gene
pathognomonic of severe localized intravascular coagulopathy
low fibrinogen
in radiography, these are pathognomonic of localized intravascular coagulopathy (LIC) in a VM
calcification of phleboliths
primary treatment for Venous Malformation
Percutaneous intralesional sclerotherapy
most efficient sclerosing agent for vascular malformation
absolute ethanol
Alternatives to ethanol sclerotherapy are sodium tetradecyl-sulphate foam or lauromacrogol that are effective for small VMs and cause fewer local adverse effects.
Histologically consist of dilated lymphatic channels with flat endothelium that expresses D2-40.
lymphatic malformation
most common complication of lymphatic malformation that can lead to septicemia
Infection
Recurrent cellulitis is the major complication, especially in patients with KTS, and it can evolve into septicemia if not promptly treated.
- 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
Klippel-Trenaunay syndrome
- 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
Capillary–lymphatic–venous malformation of right lower extremity with soft tissue hypertrophy (CLOVES syndrome)
an aggressive rare lymphatic disorder characterized by progressive **demineralization and destruction of bones, **which are replaced by lymphatic vessels and capillaries
Gorham-Stout syndrome, or “vanishing bone disease”
- 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
Angiokeratoma Circumscriptum
LMs, as well as KTS and CLOVES syndrome, are caused by mosaic or somatic mutations in what gene?
PIK3CA gene
This disease is suspected in the presence of** swelling of the dorsum of the feet **with a family history of lymphedema
Milroy disease
- 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
ARTERIOVENOUS MALFORMATIONS
- 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
Bonnet-Dechaume-Blanc or Wyburn-Mason syndrome
- 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
Cobb syndrome
triad:
1. multiple cutaneous and mucosal telangiectasias, often located on the mucosal lip;
2. epistaxis - typically the initial manifestation
3. positive family history
HEREDITARY HEMORRHAGIC TELANGIECTASIA
- 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.
PARKES WEBER SYNDROME
- 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
PHOSPHATASE AND TENSIN HOMOLOG HAMARTOMA TUMOR SYNDROME
- 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
AVMs
trigger the growth of an AVM
puberty and trauma
Seventy percent of AVMs are located on what areA?
head and neck
Schobinger stage of AVM characterized by prominent and tortuous veins
Schobinger stage II
Schobinger stage of AVM characterized by becoming subsequently** darker and painful, and they ulcerate and bleed.**
Schobinger stage III
Schobinger stage of AVM characterized by cardiac failure
Schobinger stage IV
Schobinger stage of AVM characterized by a red stain with bruit and pulses of increased amplitude.
Schobinger stage I
typically the initial manifestation of hereditary hemorrhagic telangiectasia
Recurrent epistaxis
imaging finding pathognomonic of AVM
Flow voids, corresponding to fast-flow vessels
needed before any treatment of AVM to determine feeding arteries and the nidus
Arteriography
the most complex and difficult vascular anomaly to treat.
AVM
