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 Page 74 xxx00.#####.ppt 1/24/15 12:09 PM 1 1/24/15 Diagnostic Dilemma • In 21st century, the greatest dilemma is still proper diagnosis • Proper categorization is more than semantic – Is critical for proper treatment Page 75 xxx00.#####.ppt 1/24/15 12:09 PM Goals for Presentation • Historical perspective • Diagnostic classification • Vascular tumors • Vascular malformation • Emerging trends Page 76 xxx00.#####.ppt 1/24/15 12:09 PM 2 1/24/15 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 Page 77 xxx00.#####.ppt 1/24/15 12:09 PM 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 Page 78 xxx00.#####.ppt 1/24/15 12:09 PM 3 1/24/15 Biologic Classification • 1982 Mulliken & Glowacki – Simplified the nomenclature – All vascular anomalies are either: • Hemangiomas (later Vascular Tumors) • Vascular Malformations Page 79 xxx00.#####.ppt 1/24/15 12:09 PM Tumors vs Malformations Tumors Vascular Malformations • Infantile hemangioma • Capillary • Congenital hemangioma • Venous (NICH,RICH) • Lymphatic • Kaposiform • Arterio-venous hemangioendothelioma • Combined • Tufted angioma • Pyogenic granuloma Page 80 xxx00.#####.ppt 1/24/15 12:09 PM 4 1/24/15 Vascular Tumors Hemangioma Kaposiform hemangioendothelioma Tufted angioma Hemangiomas Page 82 xxx00.#####.ppt 1/24/15 12:09 PM 5 1/24/15 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 6 1/24/15 Presentation • Stage • Size • Location • Depth • Symptoms Page 85 xxx00.#####.ppt 1/24/15 12:09 PM 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 Page 86 xxx00.#####.ppt 1/24/15 12:09 PM 7 1/24/15 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 8 1/24/15 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) Page 90 xxx00.#####.ppt 1/24/15 12:09 PM 9 1/24/15 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 Page 92 xxx00.#####.ppt 1/24/15 12:09 PM 10 1/24/15 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) Page 93 xxx00.#####.ppt 1/24/15 12:09 PM 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 Page 94 xxx00.#####.ppt 1/24/15 12:09 PM 11 1/24/15 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 12 1/24/15 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 Page 97 xxx00.#####.ppt 1/24/15 12:09 PM 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 Page 98 xxx00.#####.ppt 1/24/15 12:09 PM 13 1/24/15 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 Page 99 xxx00.#####.ppt 1/24/15 12:09 PM 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” Page 100 xxx00.#####.ppt 1/24/15 12:09 PM 14 1/24/15 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 Page 101 xxx00.#####.ppt 1/24/15 12:09 PM Venous / Lymphatic Malformations Treatment • Supportive: – Compression of extremity lesions • Laser • Interv. Radiology – Sclerotherapy ! – Coil ablation • Surgical Excision Page 102 xxx00.#####.ppt 1/24/15 12:09 PM ! 15 1/24/15 Sclerotherapy Page 103 xxx00.#####.ppt 1/24/15 12:09 PM Sclerotherapy Page 104 xxx00.#####.ppt 1/24/15 12:09 PM 16 1/24/15 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 Page 106 xxx00.#####.ppt 1/24/15 12:09 PM 17 1/24/15 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 Page 107 xxx00.#####.ppt 1/24/15 12:09 PM 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 Page 108 xxx00.#####.ppt 1/24/15 12:09 PM 18 1/24/15 Emerging Trends • Early excision • Medical therapy • Somatic mutation • Propranolol Page 109 xxx00.#####.ppt 1/24/15 12:09 PM Emerging Trends • Early excision • Medical therapy – Chemotx: vincristine – Immune modulator: • Glucocorticoid • Sirolimus • Somatic mutation • Propranolol Page 110 xxx00.#####.ppt 1/24/15 12:09 PM 19 1/24/15 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 Page 111 xxx00.#####.ppt 1/24/15 12:09 PM Update on Propranolol Page 112 xxx00.#####.ppt 1/24/15 12:09 PM 20 1/24/15 Update on Propranolol Page 113 xxx00.#####.ppt 1/24/15 12:09 PM Update on Propranolol 2 mg/kg/d prednisolone 10 WEEKS OLD 6 WEEKS OLD Page 114 xxx00.#####.ppt 1/24/15 12:09 PM 21 1/24/15 INITIAL 1 WEEK Page 115 xxx00.#####.ppt 1/24/15 12:09 PM INITIAL 2 WEEKS Page 116 xxx00.#####.ppt 1/24/15 12:09 PM 22 1/24/15 INITIAL 1 MONTH Page 117 xxx00.#####.ppt 1/24/15 12:09 PM INITIAL 3 MONTHS 23 1/24/15 INITIAL 6 MONTHS INITIAL 1 YEAR 24 1/24/15 INITIAL 2 YEARS INITIAL 3 YEARS 25 1/24/15 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 Page 124 xxx00.#####.ppt 1/24/15 12:09 PM 26 1/24/15 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 Page 125 xxx00.#####.ppt 1/24/15 12:09 PM 27 .