1/24/15
Hemangiomas and Vascular Malformations
Edward Lee, MD Texas Children’s Hospital
Birthmark
• 1 out of 3 children will have “birthmark” • 1 out of 100 require MD attention
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Diagnostic Dilemma • In 21st century, the greatest dilemma is still proper diagnosis • Proper categorization is more than semantic – Is critical for proper treatment
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Goals for Presentation • Historical perspective • Diagnostic classification • Vascular tumors • Vascular malformation • Emerging trends
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History • Long history of misconceptions: – Cravings by mother caused vascular “birthmarks” – Imaginato gravidarum / maternal impressions – Conception during menstruation à port wine stain • Fisher (1870) à Result of faulty embryogenesis • Shaw (1981) à Found that 25% of women in Wales thought port wine stain a result of maternal consumption of strawberries
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Descriptive Classification Antiquated scheme
• Strawberry • Angel’s kiss hemangioma • Stork bite • Cherry hemangioma • Pulsatile fungous • Port wine stain hematode (AV fistula) • Salmon Patch • Erectile tumor Meaningless for treatment and prognosis
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Biologic Classification
• 1982 Mulliken & Glowacki – Simplified the nomenclature – All vascular anomalies are either: • Hemangiomas (later Vascular Tumors) • Vascular Malformations
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Tumors vs Malformations
Tumors Vascular Malformations • Infantile hemangioma • Capillary • Congenital hemangioma • Venous (NICH,RICH) • Lymphatic • Kaposiform • Arterio-venous hemangioendothelioma • Combined • Tufted angioma • Pyogenic granuloma
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Vascular Tumors
Hemangioma
Kaposiform hemangioendothelioma
Tufted angioma
Hemangiomas
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Epidemiology
• Up to 10% of Caucasian children by year 1 – 1% in African-American children • Female:Male 3:1 • Premature infants – up to 30% • Predominance for head and neck 60%
Pathophysiology
• True neoplasms à endothelial proliferation • Consistency in histology despite depth – Proliferating lobules of endothelial cells • Mast cells abundant (40x normal) – Secrete heparin – Induce migration of endothelial cells • Multilaminated basement membrane
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Presentation
• Stage • Size • Location • Depth • Symptoms
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Natural Progression
• First sign – “Herald” macular patch with surrounding pale halo – Seen shortly after birth
• Initial growth – Rapid growth for 4-8 months – May become deeper – New feeding and draining vessels form
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Natural Progression
• Growth plateau:6-12 months – Well circumscribed, bright red and tense • Involution – Can begin as early as 6 months – Color fades, gray-white areas appear – Gradual decrease in thickness and volume – Atrophic wrinkled pale skin results
Involution • Typical involution breakdown – By 5 years, 50% involuted – By 7 years, 75% involuted – By 9 years, 90% involuted • Oral tumors regress less than elsewhere • Size unrelated to regression • Best results when involuted by age 4
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Involution
• After involution, 20-50% retain – Scarring – Residual fibro fatty tissue – Skin atrophy – Hypopigmentation – Residual telangiectasias
Congenital Hemangiomas
• Rapidly involuting congenital hemangioma (RICH) – Large violaceous-grey tumor – Involute by 12-18 months – No need for intervention • In utero development of hemangioma • Don’t express vascular markers like infantile hemangiomas (Glut-1, alpha SMA)
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Congenital Hemangiomas
Non-involuting congenital hemangioma (NICH) • Purplish nodules and plaques; telangiectasias • More common in males • Frequently on head and neck • Fast arterial flow (bruit or thrill)
Kasabach-Merritt Syndrome
Profound Thrombocytopenia
• Kaposiform hemangioendotheliomas (KHE) – Rapidly growing purple compressible tumor on extremity – High mortality • Tufted angiomas
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Treatment Approach
Urgent Intervention • Visual axis, airway, oropharynx, auditory canals • Large & ulcerated lesions w/ secondary hemorrhage or infection • Kasabach-Merritt syndrome or CHF • H&N location (social/emotional trauma)
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Treatment Approach
NON-INVASIVE INVASIVE • Beta blocker • Laser – PDL (585 nm) • Corticosteroids – ND:YAG – Systemic – Intralesional • Surgical excision
• Interferon alfa-2a • +/- selective embolization – SPASTIC DIPLEGIA (irreversible!!!) Combination therapy with multi-disciplinary team
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Vascular Malformations
Capillary Venous Lymphatic Arteriovenous
VM Classification = Flow Velocity
• Low-flow lesions – Venous (VM), lymphatic (LM), and capillary malformations (CM) • These frequently combine elements • High-flow lesions – Arterial (AM) and Arteriovenous malformations (AVM) • Bruit, thrill, and warmth • Expand with increased BP
• ALWAYS PRESENT AT BIRTH
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Clinical Differences Hemangioma: Malformation: • Usually not • ALL present at birth seen at birth • Commensurate growth • Rapid postnatal • Responds to trauma, proliferation and slow sepsis, hormone involution • Cystic & compressible • Do not invade bone • May invade bone
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Capillary Malformations
Port wine stains • 0.3% newborns – Frequently on face, corresponding to CN V – Lesions not involving CN V never have CNS involvement • Over time they turn from red to purple, and from smooth to nodular
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Venous Malformations
• Small blue spongy blebs to diffuse venous ectasias – Swell when dependent – Painful episodes related to thrombosis • Skeletal hypertrophy • Imaging studies – U/S or MRI – Phleboliths on XRAY
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Lymphatic Malformations
• Previously known as cystic hygromas or lymphangiomas – Macrocystic vs. microcystic • Clear cutaneous vesicles are hallmark – A result of deeper system providing upward pressure – “Tip of the iceberg”
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Lymphatic Malformations
• Often found in the neck and intraoral • Soft and compressible • Wax and wane with infections • MRI à Non-contrast enhancing fluid collections with septa
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Venous / Lymphatic Malformations Treatment • Supportive: – Compression of extremity lesions • Laser • Interv. Radiology – Sclerotherapy ! – Coil ablation • Surgical Excision
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Sclerotherapy
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Sclerotherapy
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Arteriovenous Malformations
• Can look like hemangioma early – Develops purple color – Mass develops underneath – Localized warmth – Thrill/bruit develops
Arteriovenous Malformations
Local effects • Destruction of adjacent bone • Tissue overgrowth • Bleeding • Ulceration • Suddenly expand – Trauma, infection, attempted resection
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Arteriovenous Malformations • Treat Coagulopathy Frustrating to treat • Excision vs. Embolization • Consider Circulatory arrest
• Difficult to control bleeding • Recurrences common • Ligation of feeding vessels only makes lesion worse
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Syndromic Associations
• Sturge-Weber = CM + leptomeningeal VM • Klippel-Trenaunay = CM + VM/LM + skeletal hypertrophy • Parkes-Weber = CM + AVF • Post. fossa malf. Hemangioma Arterial anomalies Cardiac defects Eye abnormalities Sternal defects
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Emerging Trends
• Early excision • Medical therapy • Somatic mutation • Propranolol
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Emerging Trends
• Early excision • Medical therapy – Chemotx: vincristine – Immune modulator: • Glucocorticoid • Sirolimus • Somatic mutation • Propranolol
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Emerging Trends
• Early excision • Medical therapy • Somatic mutation – Sturge Weber syndrome and port-wine stains caused by somatic activating mutation in GNAQ • Shirley MD, Tang H, Gallione CJ et al. Sturge-Weber and port wine stains caused by somatic mutation in GNAQ. N Engl J Med 368;21:1971-1979 (2013). • Propranolol
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Update on Propranolol
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Update on Propranolol
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Update on Propranolol
2 mg/kg/d prednisolone
10 WEEKS OLD
6 WEEKS OLD
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INITIAL 1 WEEK
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INITIAL 2 WEEKS
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INITIAL 1 MONTH
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INITIAL 3 MONTHS
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INITIAL 6 MONTHS
INITIAL 1 YEAR
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INITIAL 2 YEARS
INITIAL 3 YEARS
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INITIAL 4 YEARS (TODAY)
Treatment: Hemangioma
• Most are non-operative • May need to reconstruct residual scar • Beware of complications
• Early intervention for complications – Especially visual or airway obstruction
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Treatment: Malformaitons
• Vascular studies supplement H&P • Supportive measures can be helpful • CM à PDL laser • VM à Sclerotherapy or surgical excision • LM à Sclerotherapy (macro-) or surgical excision • AVM à Combined embolization / surgical excision
MULTIDISCIPLINARY TEAM APPROACH
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