Vascular Malformations
Kajal Lutchminarian
Infantile Hemangiomas
• A. Etiology:
• Benign proliferation of endothelial cells which is present after birth.
• B. Most common tumor of infancy
• Incidence: 1:10 infants
• 10% of white infants
• 2% of black infants
• More common in females (3:1)
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Stages of development—rapid postnatal growth, slow involution
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1. Proliferating phase (0 to 12 months)
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a. Endothelial cells and pericytes rapidly multiply (most
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significantly during 6 to 8 months of infancy)
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b. VEGF and bVEGF are drivers of proliferation
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2. Involuting phase (12 months to 10 years)
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a. Progressive shrinking of lesion volume with deposition of
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fibrous tissue and degeneration of endothelial cells (continues
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until 5 to 10 years of age)
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b. Mast cells downregulate endothelial cell turnover
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3. Involuted phase (>10 years): Loose fibrofatty tissue replaces
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previous parenchymal tissue
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a. Approximately 50% of children experience complete involution
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by age 5.
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b. Approximately 70% experience complete involution by age 7.
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c. Minimal change expected after 12 years of age.
• E. Diagnosis
• 1. Mainly based on history and physical examination findings: Lesion
• presents after birth and continues to enlarge in infancy.
• 2. Ultrasound (US). Difficult to distinguish hemangioma from
• arteriovenous malformation (AVM) as both are high-flow lesions. US
• shows shunting pattern of flow
• 3. MRI with contrast (gold standard test): Especially important if
• suspect visceral hemangiomas
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F. Associated anomalies/syndromes and rare presentations
1. Spina bifida occulta: Associated with lumbar hemangioma
2. PHACES: Posterior fossa anomalies, Hemangiomas, Cardiac
anomalies, Eye abnormalities, Sternal cleft
3. Kasabach–Merritt syndrome: Hemangioma + thrombocytopenia
a. Platelet count <10,000, normal PT/PTT
b. Diagnosis can be confirmed with MRI
4. Maffucci’s syndrome: Enchondromatosis with multiple cutaneous
hemangiomas
5. Von Hippel–Lindau disease: Retinal hemangiomas,
hemangioblastomas of the cerebellum, visceral cysts, mental
Retardation
• 6. Cutaneous visceral hemangiomas: Multiple hemangiomas (>5)
• should elicit concern for visceral hemangiomas
• a. Congestive heart failure
• b. Hepatomegaly (intrahepatic hemangiomas)
• c. Anemia
• 7. Noninvoluting congenital hemangioma (“NICH”) grows in
• proportion to child, histologically similar to infantile hemangioma
• (“regular hemangioma”, IH), except they do not express glucose
• transporter-1 protein (GLUT-1), whereas IH do express GLUT-1.
• 8. Rapidly involuting congenital hemangioma (“RICH”). Involutes
• within 1 year of life, also histologically similar appearance to IH and
• also GLUT-1 negative.
• 9. Kaposiform hemangioepithelioma (KHE): Causes platelet
• consumption, whereas NICH and RICH do not. KHEs often have a
• lymphatic component and carry malignant potential
• G. Treatment
• 1. Observation—appropriate in most cases
• a. Reassurance of parents and patients is critical
• b. Take serial photographs to monitor progress
• 2. Indications for intervention
• a. Bleeding/ulceration (5% cases). Most commonly occurs in lip or
• anogenital region
• b. Major ulceration, destruction or distortion of surrounding
• structures, and/ or obstruction of vital structures (10% cases).
• Most commonly occurs in eyelid, nose, lip, and ear.
• i. Eye/eyelid: Obstruction can cause deprivation amblyopia in as
• little as 1 week; hemangiomas can directly distort the cornea
• and damage vision.
• ii. Airway: Subglottic hemangioma can cause stridor/obstruction
• of the airway.
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3. Nonsurgical interventional treatment options
a. Laser therapy with pulsed dye laser (577 to 585 nm) which
targets oxyhemoglobin
i. Goal is to lighten the hemangioma and involved skin.
ii. Does not reduce bulk or cause involution.
iii. Penetrates only 0.75 to 1.2 mm into the dermis.
b. Minor ulcerations/bleeding
i. Application of topical antibiotics and/or hydrocolloid dressing
can speed healing.
ii. Pulsed dye laser can relieve pain and stimulate healing; if
bleeding is noted after the procedure, parents should be
counseled to hold pressure to the area x10 min.
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c. life-/limb-threatening lesions
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i. Systemic corticosteroids
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a) Historically has been considered first-line therapy for life-
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/limb-threatening hemangiomas.
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b) 2 to 3 mg/kg/day given orally for 4 to 6 weeks
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c) Initial response visible after 7 to 10 days
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d) 85% of hemangiomas respond by regression or
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stabilization of growth after completion of corticosteroid
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therapy.
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e) Monitor for cushingoid facies, myopathy,
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cardiomyopathy, premature telarche, and hirsutism.
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ii. Intralesional corticosteroid injection
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a) 3 to 5 mg/kg of corticosteroid is injected into the lesion at
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low pressure.
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b) Must be careful when injecting the eye to avoid occlusion
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of retinal artery.
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iii. β-Blockers
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a) Propranolol has recently been adopted by many centers
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and is highly effective at reducing tumor bulk during the
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proliferative phase of the disease.
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b) Its use appears to be well tolerated in infants and young
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children at a dose of 2 mg/kg/day, and use of propranolol is
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becoming standard care in problematic lesions.
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iv. Interferon α-2A
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a) Second-line treatment
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b) Effective in Kasabach–Merritt syndrome patients
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c) Indications for use
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1) Lack of response to corticosteroid therapy
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2) Prolonged use of corticosteroid therapy
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3) Complications due to corticosteroid therapy
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d) 2 to 3 mU/m2 injected subcutaneously daily
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e) Response seen over 6 to 10 months; 80% of patients
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f) Common side effects
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1) Fever on initiation (pretreat with acetaminophen)
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2) Transaminitis
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3) Transient neutropenia
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4) Anemia
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5) Spastic diplegia—must stop interferon therapy
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immediately!
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d. Vincristine (chemotherapy)
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i. Second-line therapy (same indications as interferon)
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ii. >80% response rate
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iii. Administered through central line
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iv. Side effects
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a) Peripheral neuropathy
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b) Complications due to central line placement
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c) Sepsis
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d) Line infections
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e) Hair loss
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4. Surgical treatment
a. Indications in infancy
i. Obstruction or deformation of critical/vital structures (e.g.,
eye, subglottic airway).
ii. Bleeding/ulceration unresponsive to pharmacologic
treatments
iii. Easily excisable area with acceptable and predictable scar
b. Indications in childhood (as above, plus)
i. Excision necessary to address scarring caused by ulceration
and fibro-fatty residual lesion.
ii. Staged excision and reconstruction for large lesions
c. Approach: Circular incision with purse-string closure versus
lenticular incision.
. VASCULAR MALFORMATIONS
• III. VASCULAR MALFORMATIONS
• A. Common features
• 1. Always present at birth (distinguishing factor from hemangiomas,
• which grow after birth and are not often seen at birth).
• 2. Vessels are inherently abnormal due to aberrant signal pathways
that
• determine apoptosis and proliferation pathways.
• 3. 1:1 male:female ratio
• 4. Lesions grow proportionately to child and do not involute.
• B. Diagnosis
• 1. Clinical history and physical examination
• 2. Imaging
• a. US with Doppler
• i. Differentiates slow-flow from fast-flow lesions
• ii. Highly operator-dependent
• b. MRI with contrast
• i. Gold standard test
• ii. Provides details on the anatomic distribution of the lesion
• along with unique sequences and signals used to differentiate
• the types of vascular malformation
• c. Arteriography
• i. Invasive study
• ii. Most often used in conjunction with planned embolization
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C. Capillary malformations
1. Slow-flow lesion
2. Appearance: Regular, dilated, thin-walled capillaries localized to
the papillary and superficial reticular dermis.
a. Must be differentiated from other common macular stains of the
face (e.g., nevus flammeus).
b. The autonomic nervous system influences the development of
this lesion, which is why it is often localized to distinct nerve
distributions (e.g., V1 nerve distribution with port-wine stains of
the face).
3. Incidence: 0.3% of newborns. Most common location is on the face
4. 3:1 female:male ratio
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5. Common associated syndromes
a. Sturge–Weber syndrome
i. Port-wine stain (capillary malformation) in V1/V2
distribution of the face
ii. Leptomeningeal malformations
a) Seizures
b) Contralateral hemiplegia
c) Warrants MRI of head
iii. Developmental delay
iv. Glaucoma and retinal detachment: Screen using biannual
fundoscopic and tonometry examinations for 1 to 3 years, then
yearly examinations
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b. Klippel-Trenaunay syndrome
i. Capillary malformation and/or lymphatic-venous
malformation (patchy port-wine stain on an extremity)
ii. Skeletal and soft tissue hypertrophy (axial/transverse) of an
extremity
c. Parkes–Weber syndrome
i. Capillary malformation + AVM
ii. Soft tissue/skeletal hypertrophy
d. Cobb syndrome
i. Capillary malformation localized to the trunk
ii. Associated with spinal AVM
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6. Treatment options
a. Observation
i. Lesions do not regress
ii. Can progress to “cobblestone” appearance
b. Pulsed dye laser
i. Typically requires multiple treatments
ii. 70% to 80% of patients respond with decrease in
pigmentation of the lesion.
iii. More favorable results on the lateral face as compared to
mid-face, trunk, and extremities.
c. Surgical excision. Must be used for management of softtissue/
skeletal hypertrophy to address contour deformity.
• D. Lymphatic malformations
• 1. Slow-flow lesion
• 2. Appearance
• a. Anomalous lymphatic channels filled with lymphatic tissue
• which may be clustered into vesicles
• b. Further classified as microcystic versus macrocystic
• 3. Most common cause of macroglossia, macrochelia in children.
• Can also cause facial asymmetry, distortion of surrounding tissue,
• soft- tissue/skeletal hypertrophy.
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4. Treatment options
a. Observation
i. Intralesional bleeding can be treated with NSAIDS for pain
control and rest.
ii. Antibiotics indicated for cellulitis/other infections.
b. Sclerotherapy (mainstay treatment)
i. Lesion is instilled with ethanol, doxycycline, sodium
tetradecyl sulfate
ii. Can be used effectively when macrocysts are present (large
volumes of lymphatic fluid without small loculations as seen
on US or MRI). Microcystic disease, in which many small
loculations are present, is not readily amenable to
sclerotherapy.
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c. Surgical resection
i. Direct excision can be effective but carries a high likelihood
of significant complications.
ii. Suction-assisted lipectomy has been used to debulk lesions.
iii. Complications often include
a) Cellulitis
b) Hematoma
c) Persistent drainage
d) Recurrence of vesicular lesions
e) Need for skin graft depending on extent of excision
• E. Venous malformations
• 1. Slow-flow lesion
• 2. Appearance
• a. Bluish, soft, compressible lesion which swells on dependent
• positioning; cluster of thin-walled veins with smooth muscle
• surrounding, many veins lack valves.
• b. Changes in hormone levels can cause enlargement
• 3. Must monitor for coagulopathy: Always perform coagulation
• profile studies as patients can develop DIC
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4. Treatment
a. Observation
b. Compression therapy
i. Useful for pain and edema
ii. Minimizes phlebothrombosis
c. Sclerotherapy: Most effective if performed on small cutaneous
lesions using ethanol.
i. Side effects: Blistering, full thickness necrosis, neural deficits
ii. Make sure no important neural structures are nearby if using
ethanol sclerotherapy.
d. Surgical excision: Performed most commonly after
sclerotherapy to improve cosmetic appearance or remove mass
tissue to optimize function.
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F. Arteriovenous malformation
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1. High-flow lesion
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2. Appearance: Abnormal connections between arteries and veins
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a. Arteries have thick, fibromuscular veins with prominent elastic
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lamina and stroma
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b. Veins are “arterialized” and hyperplastic
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3. Clinical features
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a. Intracranial AVMs are more common than extracranial AVMs.
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b. *Always present at birth, but NOT always apparent. Puberty
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and trauma can stimulate enlargement
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c. Schobinger stages of development
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i. Stage 1: Quiescence—bluish discoloration and warmth of
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skin with AV shunting noted on Doppler examinations.
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ii. Stage 2: Expansion—AVM begins to enlarge and
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demonstrates bruit, thrill, and pulsations.
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iii. Stage 3: Destruction—begins to bleed, cause pain, and
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destroy surrounding tissue.
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iv. Stage 4: Decompensation—persistent destruction to
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surrounding tissue with cardiac failure.
• 4. Associated syndromes
• a. Bannayan–Zonana syndrome: AVM + microcephaly + lipomas
• b. Riley–Smith’s syndrome: AVM + microcephaly +
• pseudopapilledema
• c. Osler–Weber–Rendu disease
• i. Multiple cutaneous telangiectasias with visceral AVMs (most
• commonly in lungs, liver, brain)
• ii. Often presents as frequent nosebleeds
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5. Treatment
a. Observation: Used for small, clinically stable, asymptomatic
lesions
b. Embolization with surgical excision
i. Used for Stage 3 to 4 lesions
ii. Ligation/embolization of proximal feeding vessels must never
be performed. Can cause recruitment of nearby vessels to
exacerbate AVM.
iii. Wide local excision is necessary to minimize recurrence
rates.
iv. Reconstruction with flaps is often necessary after excision.