Chapter 147 - Vascular malformations Flashcards by Beatrice Maxine Chan

Vascular malformations arise due to errors of development of vessels that occur during the ____ weeks of intrauterine life

4th - 10th

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Capillary lymphatic malformation with limb hypertrophy

Klippel Trenaunay syndrome

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Multiple endochondromas associated with multiple venous anomalies and high incidence of malignancy

Maffucci syndrome

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High flow vascular malformation of extremity with soft tissue hypertrophy

Parkes Weber syndrome

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Vascular malformations grow proportionately with the patient and usually regresses spontaneously.
True or False

False, does not regress

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Very useful noninvasive radiologic exam for differentiating various types

Doppler ultrasonography

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Congenital slow flow malformations of the capillary bed

Capillary malformation

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Port wine stain can be present in (2) syndromes

Beckwith Wiedemann

Rubinstein Taybi

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Capillary malformations persist lifelong.

True or False

True

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Embryogenic anomaly involving both the vasomotor nerves and the melanocytes (both derived from the neural crest), often located on the trunk/ extremities, in association with pigmented cutaneous lesions

Phakomatosis pigmentovascularis

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Neuro-oculo-cutaneous syndrome involves CN V1 with homolateral leptomeningeal capillary-venous malformation and choroid CVM.

Sturge Weber syndrome

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It is associated with high risk of mental retardation, epilepsy, glaucoma, buphthalmos, and retinal detachment

Sturge Weber syndrome

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Hemihypertrophy of entire body that does not follow lines of Blaschko

Diffuse Capillary Malformation with Overgrowth

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Well-delineated CM if vermilion border, tip of nose with macrocephaly is pathognomonic for this condition

Macrocephaly-Capillary Malformation

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Macrocephaly- Capillary Malformation have no risk for mental retardation.
True or False

False, at risk

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50% of capillary malformations are located on the

Face

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White cutaneous spots surrounded by pale halo of redness seen in both congenital forms of Capillary Malformation

Bier spots

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Inherited CMs are seen at birth and blanch on pressure with diascopy.
True or False

True

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In which inherited CM is CM more telangiectatic in appearance, esp. periorally and on the upper thorax.

CM-AVM2

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Phakomatosis pigmentovascularis, Sturge Weber syndrome, facial CM with hypertrophy have mutations in

GNAQ or GNA11

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Macrocephaly-Capillary Malformation have a gene defect in

AKT3, PIK3CA, PIK3R2

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Mutation of CM-AVM1?

CM-AVM2

1-RASA1

2- EPHB4

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Major concern for patient with CM is

Cosmetic

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In Atopic dermatitis, psoriasis, or acne, lesions are worse in the area of CM

Meyerson phenomenon

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Histologically, CM has

Dilated capillaries of papillary and upper reticular dermis with areas of increases number of normal looking capillaries

Stain for CM

S100

Imaging studies is mandatory for CM. | True or False

False, not mandatory except in rare situations (painful, warm, spontaneously bleeds)

If CM is painful, warm, or spontaneously bleeds; ____ is indicated to exclude Dx of fast flow malformation

Doppler UTZ

In SWS, ophthalmologic and neurologic examination is done during the first months of life and repeated ___ until puberty, even if normal at younger age

Once a year

___ should be done to evaluate occurrence of leptomeningeal CVM

Brain MRI

In DCMO, ____ is needed to evaluate progressive discrepancy around the age of _____ years

Scaniometry (leg length films) | 4-6 years old

___ is indicated for multifocal lesions

Genetic testing

Pale, uncharacteristic, and inconspicuous CMs can be a sign of

Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome

In the presence of leg length discrepancy over ___ cm, ____ is the management to prevent compensatory tilting of pelvis.

1.5cm, early - adapted shoe lift

___ is necessary for orthopedic considerations when child is 11-13 years old

Epiphysiodesis

Gold standard treatment for most CM

PDL 585-595nm, short pulse duration (400-1500ms) for 6-12 sessions

Laser treatment is more efficient on cervicofacial and trunk area than on extremities. True or False

True

Is used to treat pyogenic granuloma or lip hypertrophy

Contour resection

Most common referral to specialized centers for vascular anomalies

Venous anomalies

Associated with consumptive coagulopathy in ___% of cases

Congenital lesion made up of venous type vessels of the skin or mucosa but can involve any structure or organ

Venous malformation

___% of VMs are located in cervicofacial area; ___% on extremities

50%; 37%

Inherited VMs reaches its maximum by ___ years of age

60% Mutations in VM, mucocutaneous venous malformation (VMCM), and blue rubber bleb nevus (BRBN)

TIE2

It is characterized by one large ‘dominant’ VM lesion associated with multiple small dark blue nipple-like lesions on palms and soles

Blue rubber bleb nevus syndrome

Extracutaneous manifestations of BRBN include GIT, predominantly the ___. Complication: ____

Small bowel, acute hemorrhage —> death

Complications associated with BRBN and abdominal pain

Intussusception Volvulus Bowel infarction

In BRBN, ___ should be perfomed to detect GI lesions

Endoscopy Colonoscooy Wireless capsule endoscopy

Management of GI BRBN lesions

Iron supplementation Blood transfusions Endoscopic coagulation with Nd:Yag laser, bipolar or argon plasma coagulation

Rare, characterized by multiple endochondromas associated with subcutaneous VMs of distal extremities

Maffucci syndrome

Maffucci syndrome is caused by somatic mutations in ___

IDH1 and IDH2

Patients with Maffucci syndrome have a high incidence of malignancies

40% chondrosarcoma, glioma, fibrosarcoma, angiosarcoma

The most common location of VM

Head & neck

Small (<5cm) multifocal, asymptomatic VMs present at birth involving the lips, tongue, and buccal mucosa

Mucocutaneous venous malformation (VMCM)

VMCM is an ___ mutation of ___

AD; TIE2 (angiopoietin receptor)

Similar to VMCM but lack family history

Multifocal venous malformations (MVMs)

MVM is caused by mutation in

TIE2

Bluish to purple, raised venous anomaly characterized by multifocality, hyperkeratosis, nodularity with a cobblestone surface present at birth

Glomuvenous malformation

It is painful on palpation and noncompressible often located on the extremities

Glomuvenous malformation

Patient with GVM have normal mental and physical development | True or False

True

GVm is caused by dominat, loss-of-fxn mutation in

Glomulin gene

Histologically, GVM is characterized by

Distended venous channels with surrounding mural glomus cells

Glomus cells stain positive for (2)

Smooth muscle alpha actin | Vimentin

GVM has a more superficial location than VM | True or False

True

In patients with GVM, management is

Skin graft with excision

Rare congenital vascular anomaly with immunohistochemical profile similar to vascular neoplasms (GLUT1 positive) on the legs

Verrucous venous malformation (VVM)

VVM involves muscles/tissues | True or False

False, never

Complication of VVM

Ulceration

VVM is caused by somatic mutations of

MAP3K3

Histologically, VVM is characterized by

Hyperkeratotic epidermis on top of small blood vessels with multilaminated membrane located in the dermis and subcutis

VVM is best treated with

Surgical excision

Common feature when VM is located in the temporal muscle

Migraine

Local thrombosis is responsible for acute pain which resolves as

Phleboliths

VM produces more severe leg length discrepancy than Klipple Trenaunay syndrome True or False

Less severe

Localized intravascular coagulopathy, associated with VMs, presents with ____ in 40% of patients

Elevated D dimer level (>500ng/ml)

Severe Localized IV Coagulopathy is more common in ___ and presents with low fibrinogen levels

Large VMs of extremities

Triggers conversion of LIC to DIC

Surgery Sclerotherwpy Hormonal influences

Pathognomonic of severe LIC

Low fibrinogen level

Pathognomonic of LIC in a VM in plain radiography

Calcifications of phleboliths

__ is present in 20% of patients with extensive head and neck VMs that presents as headaches

Cerebral developmental venous anomaly

Major complications of VM

GI hemorrhage | Airway compression

Most common indications for Tx of VM

Pain | Functional impairment

Compression decreases pain and swelling in most VM, except for

GVM

Treatment for LIC

LMWH (100IU antiXa/kg/day)24 hours before and 5 days after surgery. Usually given for 2 weeks

For difficult to treat VM not amenable to surgery

Rapamycin (MTOR)

Rapamycin should not be given to ___ VMs that respond to standard of care

Small, localized asymptomatic

Primary treatment for VM

Percutaneous IL sclerotherapy

Most efficient sclerosing agent

Alcohol

Alternatives for ethanol sclerotherapy

Sodium tetradecyl sulphate foam | lauromacrogol

Side effects in 2% of detergent sclerosants

Neurologic complications

Single sclerotherapy session is needed to completely treat VM True or False

False, multiple due to propensity to recanalize and recur

Worldwide prevalence of vascular malformations is 0.3%, mostly accounted for by___

Capillary malformation

Vascular malformation are histologically characterized by

Enlarged, tortuous cells with quiescent endothelium

Most common vascular tumor

Hemangioma

For __ mutation, biopsy of affected tissue is needed; for __ mutation, blood test is sufficient to make a diagnosis

Somatic | Inherited

Can be cutaneous hallmark of occult spinal dysraphism, if located on lumbosacral area

Capillary malformation

Blanchable pink patches often located on the nape (81%), eyelids (45%), and glabella (33%)

``` Nevus flammeus neonatorum Storks bite Salmon patch Angel’s kiss Nevus simplex ```

Nevus simplex disappear spontaneously by __

1-4 years old

Phakomatosis pigmentovascularis is associated with the ff lesions

CALMs atypical Mongolian spot not on sacrum nevus spilus Pigmented nevus

Macrocephaly-Capillary malformation has also been associated with reports of

Wilms tumor

In inherited CM-AVM, the risk of having a fast flow lesion is more frequent with

CM-AVM1

It has associated toe anomalies in 30% and prominent veins

DCMO

In CM-AVM, there is __% risk of having brain or spine AVM

20-30%

___ is indicated to rule out presence of Wilms tumor

Renal ultrasound

During the first few weeks of life, CM may slightly fade due to decreased level of Hgb. True or False

True

Early treatment during childhood leads to less laser sessions. True or False

False, no effect

Laser can be used to treat hypertrophy. | True or False

False