Vascular anomalies: Difference between revisions

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__NOTOC__
__NOTOC__
'''For information on vascular tumors, [[Vascular tumor|click here]].'''


'''For information on vascular malformations, [[Vascular malformation|click here]].'''
'''For information on provisionally unclassified vascular anomalies, [[Provisionally unclassified vascular anomalies|click here]].'''
{{Vascular anomalies}}
{{CMG}}; {{AE}} {{HMHJ}}, {{Anmol}}
{{CMG}}; {{AE}} {{HMHJ}}, {{Anmol}}


==Overview==
==Overview==
 
[[Vascular anomalies]] constitute a wide array of [[disorders]] ranging from [[benign]] [[lesions]] such as [[infantile hemangioma]] to aggressive [[malignant]] [[tumors]] such as [[angiosarcoma]]. Commonly used misnomers and confusing nomenclature has often presented difficulties for accurate [[diagnosis]] and appropriate [[management]]. '''International Society for the Study of Vascular Anomalies (ISSVA)''' has now classified [[vascular anomalies]] into [[vascular tumors]] and [[vascular malformations]] with an unclassified category for [[lesions]] that show clinical and histological characteristics unique from [[disorders]] classified in [[vascular tumors]] and [[vascular malformations]].


==Classification==
==Classification==
=== Classification of Vascular Tumors ===
{|
! colspan="5" style="background:#4479BA; color: #FFFFFF;" align="center" + |Vascular Anomalies
|-
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Vascular Tumors
! colspan="4" style="background:#4479BA; color: #FFFFFF;" align="center" + |Vascular Malformations
|-
! style="background:#7d7d7d; color: #FFFFFF;" align="center" + |Simple vascular malformation
! style="background:#7d7d7d; color: #FFFFFF;" align="center" + |Combined vascular malformation*
! style="background:#7d7d7d; color: #FFFFFF;" align="center" + |Vascular malformation of major named vessels
! style="background:#7d7d7d; color: #FFFFFF;" align="center" + |Vascular malformation associated with other anomalies
|-
| style="background:#F5F5F5;" + |
*Benign
*Locally aggressive or
*Borderline
*Malignant
| style="background:#F5F5F5;" + |
*[[Capillary malformations]]
*[[Lymphatic malformations]]
*[[Venous malformations]]
*[[Arteriovenous malformations]]**
*[[Arteriovenous fistula]]**
| style="background:#F5F5F5;" + |
*Capillary venous malformation
*Capillary lymphatic malformation
*Lymphatic venous malformation
*Capillary lymphatic venous malformation
*Capillary arteriovenous malformation
*Capillary lymphatic arteriovenous malformation
*Others
For details, [[Vascular malformation#Combined Vascular Malformations|Click here]]
| style="background:#F5F5F5;" align="center" + | For details, [[Vascular malformation#Vascular Malformations of Major Named Vessels|Click here]]
| style="background:#F5F5F5;" align="center" + | For details, [[Vascular malformation#Vascular Malformations associated With other Anomalies|Click here]]
|-
| colspan="5" style="background:#DCDCDC;" + |
<sup>*</sup> Defined as two or more vascular malformations found in one lesion<br>
<sup>**</sup> High flow lesions
|-
| colspan="5" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
|}


===[[Classification of Vascular Tumors]]===


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{{Family tree | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | A01= Vascular tumors}}
{{Family tree | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | A01= '''[[Vascular tumors]]'''}}
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{{Family tree | | | | | | | B01 | | | | | | B02 | | | | | | B03 | | | | | | | | B01=Benign|B02=Locally aggressive or borderline|B03=Malignant}}
{{Family tree | | | | | | | B01 | | | | | | B02 | | | | | | B03 | | | | | | | | B01='''''Benign'''''|B02='''''Locally aggressive or borderline'''''|B03='''''Malignant'''''}}
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{{Family tree | | | | | | |)| C01 | | | | |)| D01 | | | | |)| E01 | | | | | | | C01=Infantile hemangioma / Hemangioma of infancy|D01=Kaposiform hemangioendothelioma<sup>*</sup>|E01=Angiosarcoma}}
{{Family tree | | | | | | |)| C01 | | | | |)| D01 | | | | |)| E01 | | | | | | | C01=[[Infantile hemangioma]] / [[Hemangioma of infancy]]|D01=[[Kaposiform hemangioendothelioma]]|E01=[[Angiosarcoma]]}}
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{{Family tree | | | | | | |)| C02 | | | | |)| D02 | | | | |)| E02 | | | | | | | C02=Congenital hemangioma<sup>*</sup>|D02=Retiform hemangioendothelioma|E02=Epithelioid hemangioendothelioma }}
{{Family tree | | | | | | |)| C02 | | | | |)| D02 | | | | |)| E02 | | | | | | | C02=[[Congenital hemangioma]]|D02=[[Retiform hemangioendothelioma]]|E02=[[Epithelioid hemangioendothelioma]]}}
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{{Family tree | | | | | | |)| C03 | | | | |)| D03 | | | | |`| E03 | | | | | | | C03=Tufted angioma<sup>*</sup>|D03=Papillary intralymphatic angioendothelioma (PILA), Dabska tumor|E03=Others}}
{{Family tree | | | | | | |)| C03 | | | | |)| D03 | | | | |`| E03 | | | | | | | C03=[[Tufted angioma]]|D03=[[Papillary intralymphatic angioendothelioma]] ([[PILA]]), [[Dabska tumor]]|E03=Others}}
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{{Family tree | | | | | | |)| C04 | | | | |)| D04 | | | | | | | | | | | | | | | C04=Spindle-cell hemangioma|D04=Composite hemangioendothelioma}}
{{Family tree | | | | | | |)| C04 | | | | |)| D04 | | | | | | | | | | | | | | | C04=[[Spindle-cell hemangioma]]|D04=[[Composite hemangioendothelioma]]}}
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{{Family tree | | | | | | |)| C05 | | | | |)| D05 | | | | | | | | | | | | | | | C05=Epithelioid hemangioma|D05=Pseudomyogenic hemangioendothelioma}}
{{Family tree | | | | | | |)| C05 | | | | |)| D05 | | | | | | | | | | | | | | | C05=[[Epithelioid hemangioma]]|D05=[[Pseudomyogenic hemangioendothelioma]]}}
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{{Family tree | | | | | | |)| C06 | | | | |)| D06 | | | | | | | | | | | | | | | C06=Pyogenic granuloma (also known as lobular capillary hemangioma)|D06=Polymorphous hemangioendothelioma}}
{{Family tree | | | | | | |)| C06 | | | | |)| D06 | | | | | | | | | | | | | | | C06=[[Pyogenic granuloma]] (also known as [[lobular capillary hemangioma]])|D06=[[Polymorphous hemangioendothelioma]]}}
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{{Family tree | | | | | | |)| C07 | | | | |)| D07 | | | | | | | | | | | | | | | | |C07=<table>
{{Family tree | | | | | | |)| C07 | | | | |)| D07 | | | | | | | | | | | | | | | | |C07=<table>
<tr><td>Others</td></tr>
<tr><td>Others</td></tr>
<tr><td>• Microvenular hemangioma<td></tr>
<tr><td>• [[Microvenular hemangioma]]<td></tr>
<tr><td>• Anastomosing hemangioma<td></tr>
<tr><td>• [[Anastomosing hemangioma]]<td></tr>
<tr><td>• Glomeruloid hemangioma<td></tr>
<tr><td>• [[Glomeruloid hemangioma]]<td></tr>
<tr><td>• Papillary hemangioma<td></tr>
<tr><td>• [[Papillary hemangioma]]<td></tr>
<tr><td>• Intravascular papillary endothelial hyperplasia<td></tr>
<tr><td>• [[Intravascular papillary endothelial hyperplasia]]<td></tr>
<tr><td>• Cutaneous epithelioid angiomatous nodule<td></tr>
<tr><td>• [[Cutaneous epithelioid angiomatous nodule]]<td></tr>
<tr><td>• Acquired elastotic hemangioma<td></tr>
<tr><td>• [[Acquired elastotic hemangioma]]<td></tr>
<tr><td>• Littoral cell hemangioma of the spleen<td></tr>
<tr><td>• [[Littoral cell hemangioma of the spleen]]<td></tr>
</table> |D07=Hemangioendothelioma not otherwise specified}}
</table> |D07=Hemangioendothelioma not otherwise specified}}
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{{Family tree | | | | | | |`| C08 | | | | |)| D08 | | | | | | | | | | | | | | | |C08=<table>
{{Family tree | | | | | | |`| C08 | | | | |)| D08 | | | | | | | | | | | | | | | |C08=<table>
<tr><td>Related lesions</td></tr>
<tr><td>Related lesions</td></tr>
<tr><td>• Eccrine angiomatous hamartoma<td></tr>
<tr><td>• [[Eccrine angiomatous hamartoma]]<td></tr>
<tr><td>• Reactive angioendotheliomatosis<td></tr>
<tr><td>• [[Reactive angioendotheliomatosis]]<td></tr>
<tr><td>• Bacillary angiomatosis<td></tr>'
<tr><td>• [[Bacillary angiomatosis]]<td></tr>'
</table> |D08=Kaposi sarcoma}}
</table> |D08=[[Kaposi sarcoma]]}}
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{{Family tree | | | | | | | | | | | | | | |`| D09 | | | | | | | | | | | | | | | D09=Others}}
{{Family tree | | | | | | | | | | | | | | |`| D09 | | | | | | | | | | | | | | | D09=Others}}
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<sup>*</sup>congenital hemangioma (rapidly involuting type) and tufted angioma may be associated with thrombocytopenia and/or consumptive coagulopathy in some cases. Many experts consider tufted angioma and kaposiform hemangioendothelioma to be part of a spectrum rather than distinct entities
<sup>*</sup>[[congenital hemangioma]] (rapidly involuting type) and [[tufted angioma]] may be associated with thrombocytopenia and/or consumptive coagulopathy in some cases. Many experts consider [[tufted angioma]] and [[kaposiform hemangioendothelioma]] to be part of a spectrum rather than distinct entities<br>
'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>


===Classification of Vascular Malformations===
===Classification of Vascular Malformations===


{{Family tree/start}}
{{Family tree/start}}
{{Family tree | | | | | | A01 | | | | | | | |A01= Vascular malformations}}
{{Family tree | | | | | | | A01 | | | | | | | |A01= '''[[Vascular malformations]]'''}}
{{Family tree | |,|-|-|v|-|^|-|-|v|-|-|.| | |}}
{{Family tree | |,|-|-|-|v|-|^|-|v|-|-|-|.| | |}}
{{Family tree | |!| | B02 | | B03 | | B04 | |B01=Simple vascular malformations|B02=Combined vascular malformations|B03=Vascular malformations of major named vessels|B04=Vascular malformations asscoiated with other anomalies}}
{{Family tree | B01 | | B02 | | B03 | | B04 | |B01='''''[[Simple vascular malformations]]'''''|B02='''''[[Combined vascular malformations]]'''''|B03='''''Vascular malformations of major named vessels'''''|B04='''''[[Vascular malformations asscoiated with other anomalies]]'''''}}
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{{Family tree | |!| | I02 | | I03 | | I04 | |I02='''Combined vascular malformations'''*<table class="wikitable">
{{Family tree | |!| | | I02 | | I03 | | I04 | |I02=<table class="wikitable">
<tr><td>'''CM + VM'''</td><td>Capillary-venous malformation</td><td>CVM</td></tr>
<tr><td>'''CM + VM'''</td><td>Capillary-venous malformation</td><td>CVM</td></tr>
<tr><td>'''CM + LM'''</td><td>Capillary-lymphatic malformation</td><td>CLM</td></tr>
<tr><td>'''CM + LM'''</td><td>Capillary-lymphatic malformation</td><td>CLM</td></tr>
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<tr><td>'''CM + VM + AVM'''</td><td>Capillary-venous-arteriovenous malformation</td><td>CVAVM</td></tr>
<tr><td>'''CM + VM + AVM'''</td><td>Capillary-venous-arteriovenous malformation</td><td>CVAVM</td></tr>
<tr><td>'''CM + LM + VM + AVM'''</td><td>Capillary-lymphatic-venous-arteriovenous malformation</td><td>CLVAVM</td></tr>
<tr><td>'''CM + LM + VM + AVM'''</td><td>Capillary-lymphatic-venous-arteriovenous malformation</td><td>CLVAVM</td></tr>
</table>|I03='''Anomalies of major named vessels'''<br>(also known as "channel type" or "truncal" vascular malformations)<br><table>
</table>|I03=<br>(also known as "channel type" or "truncal" vascular malformations)<br><table>
<tr><td>Affect</td></tr>
<tr><td>'''Affect'''</td></tr>
<tr><td>• Lymphatics<td></tr>
<tr><td>• [[Lymphatics]]<td></tr>
<tr><td>• Veins</tr>
<tr><td>• [[Veins]]</tr>
<tr><td>• Arteries</tr>
<tr><td>• [[Arteries]]</tr>
<tr><td>Anomalies of</td></tr>
<tr><td>'''Anomalies of'''</td></tr>
<tr><td>• Origin<td></tr>
<tr><td>• Origin<td></tr>
<tr><td>• Course<td></tr>
<tr><td>• Course<td></tr>
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<tr><td>• Communication (AVF)<td></tr>
<tr><td>• Communication (AVF)<td></tr>
<tr><td>• Persistence (of<br>embryonal vessel)<td></tr>
<tr><td>• Persistence (of<br>embryonal vessel)<td></tr>
</table>|I04='''Vascular malformations associated with other anomalies'''<table class="wikitable">
</table>|I04=<table class="wikitable">
<tr><td>'''Klippel-Trenaunay syndrome'''</td><td>CM + VM +/-LM + limb overgrowth</td></tr>
<tr><td>'''[[Klippel-Trenaunay syndrome]]'''</td><td>CM + VM +/-LM + limb overgrowth</td></tr>
<tr><td>'''Parke's Weber syndrome'''</td><td>CM + AVF + limb overgrowth</td></tr>
<tr><td>'''[[Parke's Weber syndrome]]'''</td><td>CM + AVF + limb overgrowth</td></tr>
<tr><td>'''Servelle-Martorell syndrome'''</td><td>Limb VM + bone undergrowth</td></tr>
<tr><td>'''[[Servelle-Martorell syndrome]]'''</td><td>Limb VM + bone undergrowth</td></tr>
<tr><td>'''Sturge-Weber syndrome'''</td><td>Facial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth</td></tr>
<tr><td>'''[[Sturge-Weber syndrome]]'''</td><td>Facial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth</td></tr>
<tr><td>'''Maffucci syndrome'''</td><td>VM +/-spindle-cell hemangioma + enchondroma</td></tr>
<tr><td>'''[[Maffucci syndrome]]'''</td><td>VM +/-spindle-cell hemangioma + enchondroma</td></tr>
<tr><td>'''CLOVES syndrome'''</td><td>LM + VM + CM +/-AVM+ lipomatous overgrowth</td></tr>
<tr><td>'''[[CLOVES syndrome]]'''</td><td>LM + VM + CM +/-AVM+ lipomatous overgrowth</td></tr>
<tr><td>'''Proteus syndrome'''</td><td>CM, VM and/or LM + asymmetrical somatic overgrowth</td></tr>
<tr><td>'''[[Proteus syndrome]]'''</td><td>CM, VM and/or LM + asymmetrical somatic overgrowth</td></tr>
<tr><td>'''Bannayan-Riley-Ruvalcaba sd'''</td><td>lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth</td></tr>
<tr><td>'''[[Bannayan-Riley-Ruvalcaba syndrome]]'''</td><td>lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth</td></tr>
<tr><td colspan="2">'''Limb CM + congenital non-progressive limb overgrowth'''</td></tr>
<tr><td colspan="2">'''Limb CM + congenital non-progressive limb overgrowth'''</td></tr>
<tr><td colspan="2">'''Macrocephaly-CM (M-CM / MCAP)'''</td></tr>
<tr><td colspan="2">'''Macrocephaly-CM (M-CM / MCAP)'''</td></tr>
<tr><td colspan="2">'''Microcephaly-CM (MICCAP)'''</td></tr>
<tr><td colspan="2">'''Microcephaly-CM (MICCAP)'''</td></tr>
</table>|}}
</table>|}}
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{{Family tree | B01 | |B01=Simple Vascular malformations}}
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{{Family tree | |)|-|-|-|v|-|-|-|v|-|-|-|v|-|-|-|.| | |}}
{{Family tree | |)|-|-|-|v|-|-|-|v|-|-|-|v|-|-|-|.| | |}}
{{Family tree | | C01 | | C02 | | C03 | | C04 | | C05 | |C01=Capillary malformations (CM)|C02=Lymphatic malformations (LM)|C03=Venous malformations (VM)|C04=Arteriovenous<br>malformation(AVM)|C05=Arteriovenous fistula}}
{{Family tree | | C01 | | C02 | | C03 | | C04 | | C05 | |C01=[[Capillary malformations]] (CM)|C02=[[Lymphatic malformations]] (LM)|C03=[[Venous malformations]] (VM)|C04=[[Arteriovenous malformation]] (AVM)|C05=[[Arteriovenous fistula]]}}
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{{Family tree | |)| D01 |)| E01 |)| F01 |)| G01 |)| H01 |D01=Nevus simplex / salmon patch, “angel kiss”, “stork bite”|E01=<table>
{{Family tree | |)| D01 |)| E01 |)| F01 |)| G01 |)| H01 |D01=[[Nevus simplex]] / [[salmon patch]], “[[angel kiss]]”, “[[stork bite]]”|E01=<table>
<tr><td>Common (cystic) LM </td></tr>
<tr><td>[[Common (cystic) LM]] </td></tr>
<tr><td>• Macrocystic  LM<td></tr>
<tr><td>• [[Macrocystic  LM]]<td></tr>
<tr><td>• Microcystic LM<td></tr>
<tr><td>• [[Microcystic LM]]<td></tr>
<tr><td>• Mixed cystic LM<td></tr>
<tr><td>• [[Mixed cystic LM]]<td></tr>
</table>|F01=Common VM|G01=Sporadic|H01=Sporadic}}
</table>|F01=[[Common VM]]|G01=Sporadic|H01=Sporadic}}
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{{Family tree | |)| D02 |)| E02 |)| F02 |)| G02 |)| H02 |D02=<table>
{{Family tree | |)| D02 |)| E02 |)| F02 |)| G02 |)| H02 |D02=<table>
<tr><td>Cutaneous and/or mucosal CM (also known as “port-wine” stain) </td></tr>
<tr><td>[[Cutaneous and/or mucosal CM]] (also known as [[“port-wine” stain]]) </td></tr>
<tr><td>• Nonsyndromic CM<td></tr>
<tr><td>• [[Nonsyndromic CM]]<td></tr>
<tr><td>• CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)<td></tr>
<tr><td>• CM with CNS and/or ocular anomalies ([[Sturge-Weber syndrome]])<td></tr>
<tr><td>• CM with bone and/or soft tissues overgrowth <td></tr>
<tr><td>• CM with bone and/or soft tissues overgrowth <td></tr>
<tr><td>• Diffuse CM with overgrowth (DCMO) <td></tr>
<tr><td>• [[Diffuse CM with overgrowth]] ([[DCMO]]) <td></tr>
</table>|E02=Generalized lymphatic anomaly (GLA)<br>Kaposiform lymphangiomatosis (KLA)|F02=Familial VM cutaneo-mucosal (VMCM)|G02=In HHT|H02=In HHT|}}
</table>|E02=[[Generalized lymphatic anomaly]] ([[GLA]])<br>[[Kaposiform lymphangiomatosis]] ([[KLA]])|F02=[[Familial VM cutaneo-mucosal]] ([[VMCM]])|G02=In [[HHT]]|H02=In [[HHT]]|}}
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{{Family tree | |)| D03 |)| E03 |)| F03 |)| G03 |)| H03 |D03=<table>
{{Family tree | |)| D03 |)| E03 |)| F03 |)| G03 |)| H03 |D03=<table>
<tr><td>Reticulate CM </td></tr>
<tr><td>[[Reticulate CM]] </td></tr>
<tr><td>• CM of MIC-CAP (microcephaly-capillary malformation)<td></tr>
<tr><td>• CM of MIC-CAP (microcephaly-capillary malformation)<td></tr>
<tr><td>• CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)<td></tr>
<tr><td>• CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)<td></tr>
</table>
</table>
|E03=LM in Gorham-Stout disease|F03=Blue rubber bleb nevus (Bean) syndrome VM|G03=In CM-AVM|H03=In CM-AVM|}}
|E03=LM in [[Gorham-Stout disease]]|F03=[[Blue rubber bleb nevus (Bean) syndrome]] VM|G03=In [[CM-AVM]]|H03=In [[CM-AVM]]|}}
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{{Family tree | |)| D04 |)| E04 |)| F04 |`| G04 |`| H04 |D04=CM of CM-AVM|E04=Channel type LM|F04=Glomuvenous malformation (GVM)|G04=Others|H04=Others|}}
{{Family tree | |)| D04 |)| E04 |)| F04 |`| G04 |`| H04 |D04=[[CM of CM-AVM]]|E04=Channel type LM|F04=[[Glomuvenous malformation]] ([[GVM]])|G04=Others|H04=Others|}}
{{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
{{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
{{Family tree | |)| D05 |)| E05 |)| F05 | | | | | | | | |D05=Cutis marmorata telangiectatica congenita (CMTC)|E05=“Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma")|F05=Cerebral cavernous malformation (CCM) |}}
{{Family tree | |)| D05 |)| E05 |)| F05 | | | | | | | | |D05=[[Cutis marmorata telangiectatica congenita]] ([[CMTC]])|E05=[[“Acquired” progressive lymphatic anomaly]] (so called [[acquired progressive "lymphangioma"]])|F05=[[Cerebral cavernous malformation]] ([[CCM]]) |}}
{{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
{{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
{{Family tree | |)| D06 |)| E06 |)| F06 | | | | | | | | |D06=Others|E06=Primary lymphedema |F06=Familial intraosseous vascular malformation (VMOS)|}}
{{Family tree | |)| D06 |)| E06 |)| F06 | | | | | | | | |D06=Others|E06=[[Primary lymphedema]] |F06=[[Familial intraosseous vascular malformation]] ([[VMOS]])|}}
{{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
{{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
{{Family tree | |`| D07 |`| E07 |)| F07 | | | | | | | | |D07=<table>
{{Family tree | |`| D07 |`| E07 |)| F07 | | | | | | | | |D07=<table>
<tr><td>Telangiectasia </td></tr>
<tr><td>[[Telangiectasia]] </td></tr>
<tr><td>• Hereditary hemorrhagic telangiectasia (HHT) <td></tr>
<tr><td>• [[Hereditary hemorrhagic telangiectasia]] (HHT) <td></tr>
<tr><td>• Others<td></tr>
<tr><td>• Others<td></tr>
</table>|E07=Others|F07=Verrucous venous malformation (formerly verrucous hemangioma)|}}
</table>|E07=Others|F07=[[Verrucous venous malformation]] (formerly [[verrucous hemangioma]])|}}
{{Family tree | | | | | | | | | |!| | | | | | | | | | | |}}
{{Family tree | | | | | | | | | |!| | | | | | | | | | | |}}
{{Family tree | | | | | | | | | |`| F08 | | | | | | | | |F08=Others|}}
{{Family tree | | | | | | | | | |`| F08 | | | | | | | | |F08=Others|}}
{{Family tree/end}}
{{Family tree/end}}
<small>'''Abbreviations:''' CM:capillary malformation; VM:venous malformation; CVM:capillary venous malformation; LM:lymphatic malformation; CLM:capillary lymphatic malformation; AVM:arteriovenous malformation; CAVM:capillary arteriovenous malformation; LVM:lymphatic venous malformation; CLVM:capillary lymphatic venous malformation; CVAVM:capillary venous arteriovenous malformation; CLVAVM:capillary lymphatic venous arteriovenous malformation; AVF:arteriovenous fistula; CLOVES:congenital lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal/scoliosis and spinal abnormalities; M-CM:macrocephaly-capillary malformation; MCAP:megalencephaly-capillary malformation-polymicrogyria; MICCAP:microcephaly-capillary malformation; CNS:central nervous system; DCMO:diffuse capillary malformation with overgrowth; CM-AVM:capillary malformation-arteriovenous malformation; CMTC:cutis marmorata telangiectatica congenita; HHT:hereditary hemorrhagic telangiectasia; GLA:generalized lymphatic anomaly; KLA:kaposiform lymphangiomatosis; VMCM:venous malformation cutaneo mucosal; GVM:glomuvenous malformation; CCM:cerebral cavernous malformation.</small>
'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
===Provisionally unclassified vascular anomalies===
{| class="wikitable"
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Provisionally unclassified vascular anomalies
|-
|[[Intramuscular hemangioma]] *
|-
|[[Angiokeratoma]]
|-
|[[Sinusoidal hemangioma]]
|-
|[[Acral arteriovenous "tumour"]]
|-
|[[Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)]]
|-
|[[PTEN (type) hamartoma of soft tissue]] / [["angiomatosis" of soft tissue]]
([[PHOST]])
|-
|[[Fibro adipose vascular anomaly]] ([[FAVA]])
|-
| style="background:#DCDCDC;" + |<sup>*</sup> Distinct from [[infantile hemangioma]], from intramuscular common VM, [[PHOST]]/[[AST]], [[FAVA]] and [[AVM]].<br>Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy.
|-
| colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
|}
<small>'''Abbreviations:''' VM:venous malformation; AVM:arteriovenous malformation; CAVM:capillary arteriovenous malformation; MLT:Multifocal lymphangioendotheliomatosis with thrombocytopenia; CAT:cutaneovisceral angiomatosis with thrombocytopenia; PHOST:PTEN hamartoma of soft tissue; FAVA:Fibro adipose vascular anomaly; AST:angiomatosis of soft tissue.</small>
==Genetics in Vascular Anomalies==
{| class="wikitable"
! colspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" + |Causal genes of vascular anomalies
|-
| style="background:#DCDCDC;" align="center" + |ACVRL1
|[[Telangiectasia]], [[AVM]] and [[AVF]] of [[HHT]]2
|-
| style="background:#DCDCDC;" align="center" + |AKT1
|[[Proteus syndrome]]
|-
| style="background:#DCDCDC;" align="center" + |BRAF
|[[Pyogenic granuloma]] PG
|-
| style="background:#DCDCDC" align="center" + |CAMTA1
|[[Epithelioid hemangioendothelioma]] EHE
|-
| style="background:#DCDCDC" align="center" + |CCBE1
|[[Primary generalized lymphatic anomaly]] (Hennekam lymphangiectasia-lymphedema syndrome)
|-
| style="background:#DCDCDC;" align="center" + |ELMO2
|[[Familial intraosseous vascular malformation]] [[VMOS]]
|-
| style="background:#DCDCDC;" align="center" + |ENG
|[[Telangiectasia]], [[AVM]] and [[AVF]] of [[HHT]]1
|-
| style="background:#DCDCDC;" align="center" + |EPHB4
|CM-AVM2
|-
| style="background:#DCDCDC;" align="center" + |FLT4
|[[Nonne-Milroy syndrome]] (gene also named VEGFR3)
|-
| style="background:#DCDCDC;" align="center" + |FOS
|[[Epithelioid hemangioma]] EH
|-
| style="background:#DCDCDC;" align="center" + |FOSB
|[[Pseudomyogenic hemangioendothelioma]]
|-
| style="background:#DCDCDC;" align="center" + |FOXC2
|[[Lymphedema-distichiasis]]
|-
| style="background:#DCDCDC;" align="center" + |GATA2
|[[Primary lymphedema with myelodysplasia]]
|-
| style="background:#DCDCDC;" align="center" + |GJC2
|[[Primary hereditary lymphedema]]
|-
| style="background:#DCDCDC;" align="center" + |Glomulin
|[[Glomuvenous malformation]]
|-
| style="background:#DCDCDC;" align="center" + |GNA11
|[[Congenital hemangioma]] CH
CM with bone and/or soft tissue hyperplasia
[[Diffuse CM with overgrowth]] [[DCMO]]
|-
| style="background:#DCDCDC;" align="center" + |GNA14
|[[Tufted angioma]] TA
[[Pyogenic granuloma]] PG
[[Kaposiform hemangioendothelioma]] KHE
|-
| style="background:#DCDCDC;" align="center" + |GNAQ
|[[Congenital hemangioma]] CH
CM [["Port-wine" stain]], [[nonsyndromic CM]]
CM of [[Sturge-Weber syndrome]]
|-
| style="background:#DCDCDC;" align="center" + |IDH1
|[[Maffucci syndrome]]
[[Spindle-cell hemangioma]]
|-
| style="background:#DCDCDC;" align="center" + |IDH2
|[[Maffucci syndrome]]
[[Spindle-cell hemangioma]]
|-
| style="background:#DCDCDC;" align="center" + |KIF11
|Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
|-
| style="background:#DCDCDC;" align="center" + |KRIT1
|[[Cerebral cavernous malformation]] [[CCM]]1
|-
| style="background:#DCDCDC;" align="center" + |Malcavernin
|[[Cerebral cavernous malformation]] [[CCM]]2
|-
| style="background:#DCDCDC;" align="center" + |MAP2K1
|[[Arteriovenous malformation]] AVM (sporadic)
|-
| style="background:#DCDCDC;" align="center" + |MAP2K1
|[[Ateriovenous fistula]] [[AVF]] (sporadic)
|-
| style="background:#DCDCDC;" align="center" + |MAP3K3
|[[Verrucous venous malformation]] (somatic)
|-
| style="background:#DCDCDC;" align="center" + |MYC
|Post radiation [[angiosarcoma]]
|-
| style="background:#DCDCDC;" align="center" + |NPM11
|[[Maffucci syndrome]]
|-
| style="background:#DCDCDC;" align="center" + |PDCD10
|[[Cerebral cavernous malformation]] [[CCM]]3
|-
| style="background:#DCDCDC;" align="center" + |PIK3CA
|[[Common (cystic) LM]] (somatic)*
[[Common VM]] (somatic)*
[[Klippel-Trenaunay syndrome]]*
Megalencephaly-capillary malformation-polymicrogyria (MCAP)*
[[CLOVES syndrome]]*
[[CLAPO syndrome]]*
[[Fibro adipose vascular anomaly]] [[FAVA]]
|-
| style="background:#DCDCDC;" align="center" + |PTEN
|[[Bannayan-Riley-Ruvalcaba syndrome]]
PTEN (type) Hamartoma of soft tissue / [["angiomatosis" of soft  tissue]]
|-
| style="background:#DCDCDC;" align="center" + |PTPN14
|[[Lymphedema-choanal atresia]]
|-
| style="background:#DCDCDC;" align="center" + |RASA1
|CM-AVM1
[[Parkes Weber syndrome]]
|-
| style="background:#DCDCDC;" align="center" + |SMAD4
|[[Telangiectasia]], [[AVM]] and [[AVF]] of [[Juvenile polyposis hemorrhagic telangiectasia]] JPHT
|-
| style="background:#DCDCDC;" align="center" + |SOX18
|[[Hypotrichosis-lymphedema-telangiectasia]]
|-
| style="background:#DCDCDC;" align="center" + |STAMBP
|Microcephaly-CM (MIC-CAP)
|-
| style="background:#DCDCDC;" align="center" + |TEK (TIE2)
|[[Common VM]] (somatic)
[[Familial VM cutaneo-mucosal]] [[VMCM]]
[[Blue rubber bleb nevus (Bean) syndrome]] (somatic)
|-
| style="background:#DCDCDC;" align="center" + |TFE3
|[[Epithelioid hemangioendothelioma]] EHE
|-
| style="background:#DCDCDC;" align="center" + |VEGFC
|[[Primary hereditary lymphedema]]
|-
| style="background:#DCDCDC;" align="center" + |VEGFR3
|[[Nonne-Milroy syndrome]] (gene also named FLT4)
|-
| colspan="2" style="background:#DCDCDC;" + |<sup>*</sup>Some of these lesions, associated with overgrowth, belong to the PIK3CA related overgrowth spectrum PROS
|-
| colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
|}
==Vascular anomalies possibly associated with platelet count / coagulation disorders==
{| class="wikitable"
|+
!style="background:#4479BA; color: #FFFFFF;" align="center" + |Anomalies
!style="background:#4479BA; color: #FFFFFF;" align="center" + |Hematological disorders
|-
|[[Tufted angioma]]
[[Kaposiform hemangioendothelioma]]
|Profound and sustained thrombocytopenia with profound
hypofibrinogenemia, consumptive coagulopathy and
elevated D-dimer (Kasabach-Merritt phenomenon)
|-
|[[Rapidly involuting congenital hemangioma]]
|Transient mild/moderate thrombocytopenia, +/-
consumptive coagulopathy and elevated D-dimer
|-
|[[Venous malformations]] /
Lymphatic-venous malformations
|Chronic localized intravascular coagulopathy with
elevated D-dimer, +/- hypofibrinogenemia, and +/-
moderate thrombocytopenia (may progress to DIC
after trauma or operation)
|-
|[[Lymphatic malformations]]
|Chronic localized intravascular coagulopathy with
elevated D-dimer and +/- mild to moderate
thrombocytopenia
(consider [[Kaposiform lymphangiomatosis]])
(may progress to DIC after trauma or operation)
|-
|[[Multifocal lymphangioendotheliomatosis with thrombocytopenia]] /
[[Cutaneovisceral angiomatosis with thrombocytopenia]]
|Sustained, fluctuating, moderate to profound
thrombocytopenia with gastrointestinal tract bleeding or
pulmonary hemorrhage
|-
|[[Kaposiform lymphangiomatosis]]
|Mild/moderate thrombocytopenia, +/-
hypofibrinogenemia, and D-dimer elevation
|-
| colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from International Society for the Study of Vascular Anomalies'''<ref name="urlClassification | International Society for the Study of Vascular Anomalies">{{cite web |url=http://www.issva.org/classification |title=Classification &#124; International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small>
|}
==See also==
* [[Vascular disease]]
* [[Vascular anomaly]]
==References==
{{Reflist|2}}

Latest revision as of 15:32, 23 October 2018

For information on vascular tumors, click here.

For information on vascular malformations, click here.

For information on provisionally unclassified vascular anomalies, click here.

Vascular Anomalies

Home

Patient information

Overview

Classification

Vascular Tumors
Vascular Malformations
Provisionally Unclassified Vascular Anomalies

Vascular Tumor Home Page

Vascular Malformation Home Page

Provisionally Unclassified Vascular Anomalies Home Page

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Vascular anomalies constitute a wide array of disorders ranging from benign lesions such as infantile hemangioma to aggressive malignant tumors such as angiosarcoma. Commonly used misnomers and confusing nomenclature has often presented difficulties for accurate diagnosis and appropriate management. International Society for the Study of Vascular Anomalies (ISSVA) has now classified vascular anomalies into vascular tumors and vascular malformations with an unclassified category for lesions that show clinical and histological characteristics unique from disorders classified in vascular tumors and vascular malformations.

Classification

Vascular Anomalies
Vascular Tumors Vascular Malformations
Simple vascular malformation Combined vascular malformation* Vascular malformation of major named vessels Vascular malformation associated with other anomalies
  • Benign
  • Locally aggressive or
  • Borderline
  • Malignant
  • Capillary venous malformation
  • Capillary lymphatic malformation
  • Lymphatic venous malformation
  • Capillary lymphatic venous malformation
  • Capillary arteriovenous malformation
  • Capillary lymphatic arteriovenous malformation
  • Others

For details, Click here

For details, Click here For details, Click here

* Defined as two or more vascular malformations found in one lesion
** High flow lesions

Adapted from International Society for the Study of Vascular Anomalies[1]

Classification of Vascular Tumors

 
 
 
 
 
 
 
 
 
 
 
 
 
 
Vascular tumors
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Benign
 
 
 
 
 
Locally aggressive or borderline
 
 
 
 
 
Malignant
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Infantile hemangioma / Hemangioma of infancy
 
 
 
 
 
 
Kaposiform hemangioendothelioma
 
 
 
 
 
 
Angiosarcoma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Congenital hemangioma
 
 
 
 
 
 
Retiform hemangioendothelioma
 
 
 
 
 
 
Epithelioid hemangioendothelioma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Tufted angioma
 
 
 
 
 
 
Papillary intralymphatic angioendothelioma (PILA), Dabska tumor
 
 
 
 
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Spindle-cell hemangioma
 
 
 
 
 
 
Composite hemangioendothelioma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Epithelioid hemangioma
 
 
 
 
 
 
Pseudomyogenic hemangioendothelioma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Pyogenic granuloma (also known as lobular capillary hemangioma)
 
 
 
 
 
 
Polymorphous hemangioendothelioma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
Microvenular hemangioma
Anastomosing hemangioma
Glomeruloid hemangioma
Papillary hemangioma
Intravascular papillary endothelial hyperplasia
Cutaneous epithelioid angiomatous nodule
Acquired elastotic hemangioma
Littoral cell hemangioma of the spleen
 
 
 
 
 
 
Hemangioendothelioma not otherwise specified
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
'
Related lesions
Eccrine angiomatous hamartoma
Reactive angioendotheliomatosis
Bacillary angiomatosis
 
 
 
 
 
 
Kaposi sarcoma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 


*congenital hemangioma (rapidly involuting type) and tufted angioma may be associated with thrombocytopenia and/or consumptive coagulopathy in some cases. Many experts consider tufted angioma and kaposiform hemangioendothelioma to be part of a spectrum rather than distinct entities
Adapted from International Society for the Study of Vascular Anomalies[1]

Classification of Vascular Malformations

 
 
 
 
 
 
Vascular malformations
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Simple vascular malformations
 
Combined vascular malformations
 
Vascular malformations of major named vessels
 
Vascular malformations asscoiated with other anomalies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CM + VMCapillary-venous malformationCVM
CM + LMCapillary-lymphatic malformationCLM
CM + AVMCapillary-arteriovenous malformationCAVM
LM + VMLymphatic-venous malformationLVM
CM + LM + VMCapillary-lymphatic-venous malformationCLVM
CM + LM + AVMCapillary-lymphatic-arteriovenous malformationCLVM
CM + VM + AVMCapillary-venous-arteriovenous malformationCVAVM
CM + LM + VM + AVMCapillary-lymphatic-venous-arteriovenous malformationCLVAVM
 

(also known as "channel type" or "truncal" vascular malformations)
Affect
Lymphatics
Veins
Arteries
Anomalies of
• Origin
• Course
• Number
• Diameter (aplasia,
hypoplasia, stenosis,
ectasia / aneurysm)
• Valves
• Communication (AVF)
• Persistence (of
embryonal vessel)
 
Klippel-Trenaunay syndromeCM + VM +/-LM + limb overgrowth
Parke's Weber syndromeCM + AVF + limb overgrowth
Servelle-Martorell syndromeLimb VM + bone undergrowth
Sturge-Weber syndromeFacial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth
Maffucci syndromeVM +/-spindle-cell hemangioma + enchondroma
CLOVES syndromeLM + VM + CM +/-AVM+ lipomatous overgrowth
Proteus syndromeCM, VM and/or LM + asymmetrical somatic overgrowth
Bannayan-Riley-Ruvalcaba syndromelower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth
Limb CM + congenital non-progressive limb overgrowth
Macrocephaly-CM (M-CM / MCAP)
Microcephaly-CM (MICCAP)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Capillary malformations (CM)
 
Lymphatic malformations (LM)
 
Venous malformations (VM)
 
Arteriovenous malformation (AVM)
 
Arteriovenous fistula
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Nevus simplex / salmon patch, “angel kiss”, “stork bite
 
 
Common (cystic) LM
Macrocystic LM
Microcystic LM
Mixed cystic LM
 
 
Common VM
 
 
Sporadic
 
 
Sporadic
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cutaneous and/or mucosal CM (also known as “port-wine” stain)
Nonsyndromic CM
• CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)
• CM with bone and/or soft tissues overgrowth
Diffuse CM with overgrowth (DCMO)
 
 
Generalized lymphatic anomaly (GLA)
Kaposiform lymphangiomatosis (KLA)
 
 
Familial VM cutaneo-mucosal (VMCM)
 
 
In HHT
 
 
In HHT
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Reticulate CM
• CM of MIC-CAP (microcephaly-capillary malformation)
• CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)
 
 
LM in Gorham-Stout disease
 
 
Blue rubber bleb nevus (Bean) syndrome VM
 
 
In CM-AVM
 
 
In CM-AVM
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CM of CM-AVM
 
 
Channel type LM
 
 
Glomuvenous malformation (GVM)
 
 
Others
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cutis marmorata telangiectatica congenita (CMTC)
 
 
“Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma")
 
 
Cerebral cavernous malformation (CCM)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
Primary lymphedema
 
 
Familial intraosseous vascular malformation (VMOS)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Telangiectasia
Hereditary hemorrhagic telangiectasia (HHT)
• Others
 
 
Others
 
 
Verrucous venous malformation (formerly verrucous hemangioma)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
 
 
 
 
 
 
 

Abbreviations: CM:capillary malformation; VM:venous malformation; CVM:capillary venous malformation; LM:lymphatic malformation; CLM:capillary lymphatic malformation; AVM:arteriovenous malformation; CAVM:capillary arteriovenous malformation; LVM:lymphatic venous malformation; CLVM:capillary lymphatic venous malformation; CVAVM:capillary venous arteriovenous malformation; CLVAVM:capillary lymphatic venous arteriovenous malformation; AVF:arteriovenous fistula; CLOVES:congenital lipomatous overgrowth, vascular malformations, epidermal nevi, skeletal/scoliosis and spinal abnormalities; M-CM:macrocephaly-capillary malformation; MCAP:megalencephaly-capillary malformation-polymicrogyria; MICCAP:microcephaly-capillary malformation; CNS:central nervous system; DCMO:diffuse capillary malformation with overgrowth; CM-AVM:capillary malformation-arteriovenous malformation; CMTC:cutis marmorata telangiectatica congenita; HHT:hereditary hemorrhagic telangiectasia; GLA:generalized lymphatic anomaly; KLA:kaposiform lymphangiomatosis; VMCM:venous malformation cutaneo mucosal; GVM:glomuvenous malformation; CCM:cerebral cavernous malformation.

Adapted from International Society for the Study of Vascular Anomalies[1]

Provisionally unclassified vascular anomalies

Provisionally unclassified vascular anomalies
Intramuscular hemangioma *
Angiokeratoma
Sinusoidal hemangioma
Acral arteriovenous "tumour"
Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)
PTEN (type) hamartoma of soft tissue / "angiomatosis" of soft tissue

(PHOST)

Fibro adipose vascular anomaly (FAVA)
* Distinct from infantile hemangioma, from intramuscular common VM, PHOST/AST, FAVA and AVM.
Some lesions may be associated with thrombocytopenia and/or consumptive coagulopathy.
Adapted from International Society for the Study of Vascular Anomalies[1]

Abbreviations: VM:venous malformation; AVM:arteriovenous malformation; CAVM:capillary arteriovenous malformation; MLT:Multifocal lymphangioendotheliomatosis with thrombocytopenia; CAT:cutaneovisceral angiomatosis with thrombocytopenia; PHOST:PTEN hamartoma of soft tissue; FAVA:Fibro adipose vascular anomaly; AST:angiomatosis of soft tissue.

Genetics in Vascular Anomalies

Causal genes of vascular anomalies
ACVRL1 Telangiectasia, AVM and AVF of HHT2
AKT1 Proteus syndrome
BRAF Pyogenic granuloma PG
CAMTA1 Epithelioid hemangioendothelioma EHE
CCBE1 Primary generalized lymphatic anomaly (Hennekam lymphangiectasia-lymphedema syndrome)
ELMO2 Familial intraosseous vascular malformation VMOS
ENG Telangiectasia, AVM and AVF of HHT1
EPHB4 CM-AVM2
FLT4 Nonne-Milroy syndrome (gene also named VEGFR3)
FOS Epithelioid hemangioma EH
FOSB Pseudomyogenic hemangioendothelioma
FOXC2 Lymphedema-distichiasis
GATA2 Primary lymphedema with myelodysplasia
GJC2 Primary hereditary lymphedema
Glomulin Glomuvenous malformation
GNA11 Congenital hemangioma CH

CM with bone and/or soft tissue hyperplasia

Diffuse CM with overgrowth DCMO

GNA14 Tufted angioma TA

Pyogenic granuloma PG

Kaposiform hemangioendothelioma KHE

GNAQ Congenital hemangioma CH

CM "Port-wine" stain, nonsyndromic CM

CM of Sturge-Weber syndrome

IDH1 Maffucci syndrome

Spindle-cell hemangioma

IDH2 Maffucci syndrome

Spindle-cell hemangioma

KIF11 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
KRIT1 Cerebral cavernous malformation CCM1
Malcavernin Cerebral cavernous malformation CCM2
MAP2K1 Arteriovenous malformation AVM (sporadic)
MAP2K1 Ateriovenous fistula AVF (sporadic)
MAP3K3 Verrucous venous malformation (somatic)
MYC Post radiation angiosarcoma
NPM11 Maffucci syndrome
PDCD10 Cerebral cavernous malformation CCM3
PIK3CA Common (cystic) LM (somatic)*

Common VM (somatic)*

Klippel-Trenaunay syndrome*

Megalencephaly-capillary malformation-polymicrogyria (MCAP)*

CLOVES syndrome*

CLAPO syndrome*

Fibro adipose vascular anomaly FAVA

PTEN Bannayan-Riley-Ruvalcaba syndrome

PTEN (type) Hamartoma of soft tissue / "angiomatosis" of soft tissue

PTPN14 Lymphedema-choanal atresia
RASA1 CM-AVM1

Parkes Weber syndrome

SMAD4 Telangiectasia, AVM and AVF of Juvenile polyposis hemorrhagic telangiectasia JPHT
SOX18 Hypotrichosis-lymphedema-telangiectasia
STAMBP Microcephaly-CM (MIC-CAP)
TEK (TIE2) Common VM (somatic)

Familial VM cutaneo-mucosal VMCM

Blue rubber bleb nevus (Bean) syndrome (somatic)

TFE3 Epithelioid hemangioendothelioma EHE
VEGFC Primary hereditary lymphedema
VEGFR3 Nonne-Milroy syndrome (gene also named FLT4)
*Some of these lesions, associated with overgrowth, belong to the PIK3CA related overgrowth spectrum PROS
Adapted from International Society for the Study of Vascular Anomalies[1]

Vascular anomalies possibly associated with platelet count / coagulation disorders

Anomalies Hematological disorders
Tufted angioma

Kaposiform hemangioendothelioma

Profound and sustained thrombocytopenia with profound

hypofibrinogenemia, consumptive coagulopathy and

elevated D-dimer (Kasabach-Merritt phenomenon)

Rapidly involuting congenital hemangioma Transient mild/moderate thrombocytopenia, +/-

consumptive coagulopathy and elevated D-dimer

Venous malformations /

Lymphatic-venous malformations

Chronic localized intravascular coagulopathy with

elevated D-dimer, +/- hypofibrinogenemia, and +/-

moderate thrombocytopenia (may progress to DIC

after trauma or operation)

Lymphatic malformations Chronic localized intravascular coagulopathy with

elevated D-dimer and +/- mild to moderate

thrombocytopenia

(consider Kaposiform lymphangiomatosis)

(may progress to DIC after trauma or operation)

Multifocal lymphangioendotheliomatosis with thrombocytopenia /

Cutaneovisceral angiomatosis with thrombocytopenia

Sustained, fluctuating, moderate to profound

thrombocytopenia with gastrointestinal tract bleeding or

pulmonary hemorrhage

Kaposiform lymphangiomatosis Mild/moderate thrombocytopenia, +/-

hypofibrinogenemia, and D-dimer elevation

Adapted from International Society for the Study of Vascular Anomalies[1]

See also

References

  1. 1.0 1.1 1.2 1.3 1.4 1.5 "Classification | International Society for the Study of Vascular Anomalies".