Clinical Perspective: Vascular Anomalies with revised 2014 ISSVA Classification
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1 Clinical Perspective: Vascular Anomalies with revised 2014 ISSVA Classification Joao uilherme Amaral Pediatric Interventional Radiologist Division Chief Image uided Therapy Centre - The Hospital for Sick Children Associate Professor University of Toronto
2 Vascular anomalies Naevus maternus, Naevus flammeus Stigma metrocelis, Envie, Voglia di Fragola Imagination ravidarum, Phantasia Strawberry hemangioma, port wine stain, cherry angioma Cavernous hemangioma, Cavernoma, Angioma Cavernosum Lymphangioma, Lymphangio-hemangioma, Cystic hygroma
3 History Descriptive Classification Hunter 1757 Anatomicopathological Classification Virchow 1863 (angioma simplex, angioma cavernosum, angioma racemosum) AFIP Landing and Farber 1956 Embryological Classification Clinical-histologic Classification Mulliken and lowacki 1982 Hemangioma = endothelial hyperplasia Malformations = normal endothelial turnover
4 ISSVA Binary Classification of Vascular Anomalies 1996 Tumors Hemangioma Hemangioendothelioma Angiosarcomas Miscellaneous Malformations Slow-Flow Capillary Lymphatic Venous Fast-Flow Arterial Combined
5 Biological Classification Vascular tumor Vascular Malformation Infantile Hemangioma Single Combined Congenital Hemangioma Fast Flow RICH AVM CAVM, CLAVM NICH AVF CAVF Kaposiform Hemangioend. Parks Weber Angiosarcoma Slow flow Capillary (C) CLM Venous (V) Klippel-Trenaunay Lymphatic (L) Maffucci
6 ISSVA classification for vascular anomalies (Approved at the 20th ISSVA Workshop, Melbourne, April 2014) Overview table Vascular anomalies Vascular tumors Vascular malformations Simple Combined of major named vessels associated with other anomalies Benign Locally aggressive or borderline Malignant Capillary malformations Lymphatic malformations Venous malformations Arteriovenous malformations* Arteriovenous fistula* CVM, CLM LVM, CLVM CAVM* CLAVM* others See details See list defined as two or more vascular malformations found in one lesion * high-flow lesions issva.org
7 Benign vascular tumors ISSVA classification of vascular tumors Infantile hemangioma / Hemangioma of infancy Congenital hemangioma see details Rapidly involuting (RICH) * Non-involuting (NICH) Tufted angioma * Partially involuting (PICH) Spindle-cell hemangioma Epithelioid hemangioma Pyogenic granuloma (aka lobular capillary hemangioma) Others Locally aggressive or borderline vascular tumors Kaposiform hemangioendothelioma * Retiform hemangioendothelioma Papillary intralymphatic angioendothelioma (PILA), Dabska tumor Composite hemangioendothelioma Kaposi sarcoma Others Malignant vascular tumors Angiosarcoma Epithelioid hemangioendothelioma Others issva.org
8 Benign Vascular Tumor Infantile Hemangioma Endothelial tumor VEF receptors LUT-1 positive Most common tumor of infancy 4% of caucasian infants Risk factors: Prematurity, low birth weight, female (3:1) 0 1 mo 3 mo 12 mo 18 mo 5 yrs 10 yrs proliferative 0 18 involutive
9 Infantile Hemangioma Clinical presentation 1. At birth absent or premonitory mark (pale macule with telangiectasias, bruised area, weeks (Superficial) brightly erythematous macules/ plaques or 2 to 3 months (Deep) bluish nodule with normal skin 3. 1 mo to 12 months - Rapid growth months to 10 years Slow involution Clinical exam Proliferative: Non-compressible mass, warm Involutive: Soft/ fatty mass, telangiectasias, flax skin
10 Infantile Hemangioma Pattern Focal Multifocal Segmental Indeterminate Different types Superficial Deep Mixed Reticular/ minimal growth Others
11 Infantile Hemangioma Complications: Ulceration, bleeding, pain, infection Perioral and perineal ulceration Face beard distribution - Airway compromise, noisy breathing, stridor Check for subglottic hemangioma Periorbital astigmatismus, visual obstruction, strabismus, proptosis Disfigurement fibrofatty residual tissue, telangiectasia, erythema, atrophy, hypopigmentation 5 or more cutaneous hemangiomas check liver and hypothyroidism
12 Hemangioma Associations PHACES Posterior fossa brain malformations, Hemangiomas of the face (typically large and segmental), Arterial anomalies, Cardiac anomalies and Coarctation of the aorta, Eye abnormalities and ventral developmental defect ( sternal cleft, supraumbilical raphe), LUMBAR syndrome - Lower body infantile hemangiomas, Urogenital anomalies and ulceration, Myelopathy, Bony deformities, Arterial anomalies, and anorectal anomalies
13 Benign Vascular Tumor RICH Rapid-involuting congenital hemangioma lut-1 Negative Present and fully grown at birth Mass or plaque with a pale halo, warm to palpation Transient coagulopathy with thrombocytopenia Involution 12 months - atrophy, telangiectasias 0 1 mo 3 mo 12 mo 18 mo 5 yrs 10 yrs involutive
14 Benign Vascular Tumor NICH Non-involuting congenital hemangioma lut-1 Negative Capillary proliferation in a dense fibrous stroma Present at birth - grow proportionately to patient Flat, pale, warm, indurated lesions with telangiectasias 0 1 mo 3 mo 12 mo 18 mo 5 yrs 10 yrs proliferative involutive
15 Locally Aggressive Vascular Tumor Kaposiform Hemangioendothelioma Mixed hemangioma and lymphatic malformation infiltrative spindle cells in dermis, subcutaneous fat and muscle D2-40 positive Clinically Tense bluish purple lesions, aggressive looking Complications Ulceration, infection, pain (during treatment due to edema) Kasabach-Merritt phenomenon platelet consumption and low fibrinogen
16 ISSVA classification for vascular anomalies Simple vascular malformations I Capillary malformations (CM) Cutaneous and/or mucosal CM (aka port-wine stain ) CM with bone and/or soft tissue overgrowth CM with CNS and/or ocular anomalies (Sturge-Weber syndrome) CM of CM-AVM CM of MICCAP (microcephaly-capillary malformation) CM of MCAP (megalencephaly-capillary malformation-polymicrogyria) Telangiectasia Hereditary hemorrhagic telangiectasia (HHT) (different types) Others Cutis marmorata telangiectatica congenita (CMTC) Nevus simplex / Salmon patch / angel kiss, stork bite Others issva.org
17 Capillary Malformations (CM) Ectatic dermal vessels port-wine stain Most commonly on the head and neck birth / row proportionately to patient Clinical presentation of the lesion: Birth dull pink Adolescence bright red Adulthood purple, dermal thickening ( cobblestone-like ) Blotchy or eographic Associations Sturge-Weber, CM-AVM
18 ISSVA classification for vascular anomalies Simple vascular malformations II Lymphatic malformations (LM) Common (cystic) LM Macrocystic LM Microcystic LM Mixed cystic LM eneralized lymphatic anomaly (LA) LM in orham-stout disease Channel type LM Primary lymphedema (different types) Others issva.org
19 Lymphatic Malformations (LM) Abnormal lymphatic channels 40 50% in the head/ neck, mediastinum, axilla, groin Micro, Macrocystic or Mixed 1 or 2 cm birth/ row proportionately to patient Clinical presentation Bleeding Infection Swelling (focal or diffuse) Vesicles (weeping)/ Hyperhidrosis Hypertricosis
20 ISSVA classification for vascular anomalies Primary lymphedema Simple vascular malformations IIb Nonne-Milroy syndrome Primary hereditary lymphedema Lymphedema-distichiasis Hypotrichosis-lymphedema-telangiectasia Primary lymphedema with myelodysplasia Primary generalized lymphatic anomaly (Hennekam lymphangiectasia-lymphedema syndrome) Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome Lymphedema-choanal atresia issva.org issva.org clic on to see genetics
21 ISSVA classification for vascular anomalies Venous malformations (VM) Simple vascular malformations III Common VM Familial VM cutaneo-mucosal (VMCM) Blue rubber bleb nevus (Bean) syndrome VM lomuvenous malformation (VM) Cerebral cavernous malformation (CCM) (different types) Others issva.org
22 Venous Malformations (VM) Venous channels or lakes lacking mural smooth muscle birth / row proportionately to patient Clinical presentation: Bluish, Soft, compressible localized or diffuse mass Increases in size with Valsalva/ dependent position Pain, worse after exercises Sensation of heaviness Phleboliths Localized intravascular coagulopathy (elevated D- dimmer, low fibrinogen)
23 ISSVA classification for vascular anomalies Arteriovenous malformations (AVM) Sporadic Simple vascular malformations IV In HHT In CM-AVM Others Arteriovenous fistula (AVF) (congenital) Sporadic In HHT In CM-AVM Others issva.org
24 AVM Abnormal communication between artery and vein - NIDUS birth rowth proportional to pt rowth spurts, puberty, pregnancy, trauma, surgery Clinical findings: Pulsatile, warm, throbbing sensation Bruit or murmur, thrill Arterial steal/ Congestive heart failure
25 Schobinger Classification Type 1 skin blush Type 2 mass with a bruit and thrill Type 3 mass associated to ulceration, bleeding or pain Type 4 = 3 + cardiac failure
26 ISSVA classification for vascular anomalies Anomalies of major named vessels (aka "channel type" or "truncal" vascular malformations) Affect lymphatics veins arteries Anomalies of origin course number length diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm) valves communication (AVF) persistence (of embryonal vessel) issva.org
27 AVF Direct communication between artery and vein NO NIDUS Traumatic or iatrogenic Clinical findings: Venous Pulsatility Bruit or murmur, Thrill Arterial steal
28 ISSVA classification for vascular anomalies Combined vascular malformations* CM + VM capillary-venous malformation CVM CM + LM capillary-lymphatic malformation CLM CM + AVM capillary-arteriovenous malformation CAVM LM + VM lymphatic-venous malformation LVM CM + LM + VM capillary-lymphatic-venous malformation CLVM CM + LM + AVM capillary-lymphatic-arteriovenous malformation CLAVM CM + VM + AVM capillary-venous-arteriovenous malformation CVAVM CM + LM + VM + AVM capillary-lymphatic-venous-arteriovenous m. CLVAVM eviations used issva.org * defined as two or more vascular malformations found in one lesion
29 ISSVA classification for vascular anomalies Vascular malformations associated with other anomalies Klippel-Trenaunay syndrome: CM + VM +/- LM + limb overgrowth Parkes Weber syndrome: CM + AVF + limb overgrowth Servelle-Martorell syndrome: Sturge-Weber syndrome: limb VM + bone undergrowth facial + leptomeningeal CM + eye anomalies +/- bone and/or soft tissue overgrowth Limb CM + congenital non-progressive limb hypertrophy Maffucci syndrome: VM +/- spindle-cell hemangioma + enchondroma Macrocephaly - CM (M-CM / MCAP) Microcephaly - CM (MICCAP) CLOVES syndrome: LM + VM + CM +/- AVM + lipomatous overgrowth Proteus syndrome: CM, VM and/or LM + asymmetrical somatic overgrowth Bannayan-Riley-Ruvalcaba sd: AVM + VM +macrocephaly, lipomatous overgrowth
30 Vascular Malformations & Other Anomalies Klippel-Trenaunay Syndrome CM + VM/Embrional vein + LM + Limb Overgrowth VM Coagulopathy, painful superficial thrombophlebitis, DVT, pulmonary thromboembolism Embrional marginal vein venous engorgement, pain LM fluid weeping, bleeding, infection, pain Overgrowth leg length discrepancy Parks-Weber Syndrome CM + AVM + Limb Overgrowth Servelle Martorell Syndrome VM + Limb Undergrowth
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