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==Overview==
{{Infobox disease |
{{Infobox disease |
   Name          = Vascular malformation |
   Name          = Vascular malformation |
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   MeshID        = D054079 |
   MeshID        = D054079 |
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'''Vascular malformation''' is a [[blood vessel]] [[vascular anomalies|abnormality]]. There are many types, but the most common is [[arteriovenous malformation]].<ref name="urlVascular Malformations of the CNS">{{cite web |url=http://rad.usuhs.mil/rad/home/vascmalf/malf0.html |title=Vascular Malformations of the CNS |work= |accessdate=}}</ref>
'''For information on vascular anomalies, [[Vascular anomalies|click here]]'''
It may cause aesthetic problems as it has a growth cycle and can continue to grow throughout life. This is also known as Vascular giantism or lymphangiomas.
 
==Vascular malformations==
{{Vascular malformation}}
===Simple vascular malformations===
{{CMG}}; {{AE}} {{HMHJ}}, {{Anmol}}
====Capillary malformations (CM)====
 
=====Nevus simplex=====
 
* Also called "salmon patch" , “angel kiss”, “stork bite”, this common anomaly presents as single or multiple blanchable, pink-red patches with poorly defined borders in newborn infants. It may affect up to 60% of new born infants.<ref name="pmid20728246">{{cite journal |vauthors=Juern AM, Glick ZR, Drolet BA, Frieden IJ |title=Nevus simplex: a reconsideration of nomenclature, sites of involvement, and disease associations |journal=J. Am. Acad. Dermatol. |volume=63 |issue=5 |pages=805–14 |date=November 2010 |pmid=20728246 |doi=10.1016/j.jaad.2009.08.066 |url=}}</ref>
==Overview==
* Typically are found at the nape of the neck , on the forehead between the eyebrows or on the eyelids. Although asymptomatic, they often become more noticeable during crying or temperature changes.
'''Vascular malformation''' is a [[blood vessel]] [[vascular anomalies|abnormality]]. There are many types, but the most common is [[arteriovenous malformation]]. Clinical behavior and growth cycles vary widely and it may cause clinical and aesthetic problems. ''' International Society for the Study of Vascular Anomalies (ISSVA)''' has classified [[vascular malformation]] into [[simple malformation]], [[combined malformation]], those of major named vessels, and those associated with other anomalies. [[Simple malformation]] have been divided further into [[capillary malformation]], [[venous malformation]] and [[lymphatic malformation]].
* Fades within one to two years, though some lesions can persist on the back of the neck.<ref name="pmid3562091">{{cite journal |vauthors=Cohen BA |title=Hemangiomas in infancy and childhood |journal=Pediatr Ann |volume=16 |issue=1 |pages=17–26 |date=January 1987 |pmid=3562091 |doi= |url=}}</ref> No treatment is needed except when asked by the patient.
* Imaging studies are recommended to evaluate for underlying spinal dysraphism if lumbosacral nevus simplex is present with another lumbosacral abnormality such as dermal sinus or pit, lipoma, patch of hypertrichosis, or deviated gluteal cleft.<ref name="pmid20728246">{{cite journal |vauthors=Juern AM, Glick ZR, Drolet BA, Frieden IJ |title=Nevus simplex: a reconsideration of nomenclature, sites of involvement, and disease associations |journal=J. Am. Acad. Dermatol. |volume=63 |issue=5 |pages=805–14 |date=November 2010 |pmid=20728246 |doi=10.1016/j.jaad.2009.08.066 |url=}}</ref>


=====Cutaneous and/or mucosal CM (“port-wine” stain)=====
==Classification==
* "A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema." They occur on face for majority of times and may vary from pale pink to deep red or purple, ranging from few millimeters to centimeters in diameter.<ref name="urlPort-Wine Stain - MeSH - NCBI">{{cite web |url=https://www.ncbi.nlm.nih.gov/mesh/68019339 |title=Port-Wine Stain - MeSH - NCBI |format= |work= |accessdate=}}</ref> Lesions are usually flat, are not painful and do not regress spontaneously.
* Can be classified as follows:
** 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)
* Usually occur as sporadic isolated lesions, following the embryonic vasculature of the face.<ref name="pmid26192947">{{cite journal |vauthors=Frigerio A, Wright K, Wooderchak-Donahue W, Tan OT, Margraf R, Stevenson DA, Grimmer JF, Bayrak-Toydemir P |title=Genetic Variants Associated with Port-Wine Stains |journal=PLoS ONE |volume=10 |issue=7 |pages=e0133158 |date=2015 |pmid=26192947 |pmc=4508108 |doi=10.1371/journal.pone.0133158 |url=}}</ref> Majority of lesions are caused by somatic mutations in GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) and its paralogue GNA 11. Somatic activating mutation in  GNAQ c.548G>A, p.Arg183Gln has been demonstrated in majority of lesions. A novel GNAQ, c.547C>G, p.Arg183Gly variant has also been found to be associated with some lesions.<ref name="pmid26192947">{{cite journal |vauthors=Frigerio A, Wright K, Wooderchak-Donahue W, Tan OT, Margraf R, Stevenson DA, Grimmer JF, Bayrak-Toydemir P |title=Genetic Variants Associated with Port-Wine Stains |journal=PLoS ONE |volume=10 |issue=7 |pages=e0133158 |date=2015 |pmid=26192947 |pmc=4508108 |doi=10.1371/journal.pone.0133158 |url=}}</ref>
* May be associated with other abnormalities including glaucoma, and soft tissue and bone overgrowth and with various syndromes including Sturge-Weber syndrome, Klippel-Trenaunay syndrome, Parkes-Weber syndrome, Servelle-Martorell syndrome, Proteus syndrome, CLOVES syndrome, Bannayan-Riley-Ruvalcaba syndrome, Capillary malformation-arteriovenous malformation syndrome, Macrocephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome, Beckwith-Wiedemann syndrome.
* Diagnosis is mainly clinical depending upon history and examination. New born screening for other congenital and genetic anomalies may be indicated including urgent ophthalmology review and a brain MRI.<ref name="pmid24976116">{{cite journal |vauthors=Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA |title=New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk |journal=Br. J. Dermatol. |volume=171 |issue=4 |pages=861–7 |date=October 2014 |pmid=24976116 |pmc=4284033 |doi=10.1111/bjd.13203 |url=}}</ref>
* The pulsed dye laser (PDL) treatment is considered to be the gold standard. Surgery is considered when PWS is associated with bone and soft tissues overgrowth.<ref name="pmid29217063">{{cite journal |vauthors=Lee JW, Chung HY |title=Capillary Malformations (Portwine Stains) of the Head and Neck: Natural History, , Laser, and Surgical Management |journal=Otolaryngol. Clin. North Am. |volume=51 |issue=1 |pages=197–211 |date=FebInvestigationsruary 2018 |pmid=29217063 |doi=10.1016/j.otc.2017.09.004 |url=}}</ref>
* To learn more about PWS click here.


=====Reticulate CM=====
{{Family tree/start}}
* Cutaneous capillary malformations which are reticulated, widespread on body ranging from few to hundreds of oval/circular macules or patches varying in size from few mm to several cm. These anomalies are found in two syndromes:
{{Family tree | | | | | | | A01 | | | | | | | |A01= '''[[Vascular malformations]]'''}}
** CM of MIC-CAP (microcephaly-capillary malformation)
{{Family tree | |,|-|-|-|v|-|^|-|v|-|-|-|.| | |}}
** CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)
{{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]]'''''}}
{{Family tree | |!| | | |!| | | |!| | | |!| | |}}
{{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 + LM'''</td><td>Capillary-lymphatic malformation</td><td>CLM</td></tr>
<tr><td>'''CM + AVM'''</td><td>Capillary-arteriovenous malformation</td><td>CAVM</td></tr>
<tr><td>'''LM + VM'''</td><td>Lymphatic-venous malformation</td><td>LVM</td></tr>
<tr><td>'''CM + LM + VM'''</td><td>Capillary-lymphatic-venous malformation</td><td>CLVM</td></tr>
<tr><td>'''CM + LM + AVM'''</td><td>Capillary-lymphatic-arteriovenous malformation</td><td>CLVM</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>
</table>|I03=<br>(also known as "channel type" or "truncal" vascular malformations)<br><table>
<tr><td>'''Affect'''</td></tr>
<tr><td>• Lymphatics<td></tr>
<tr><td>• Veins</tr>
<tr><td>• Arteries</tr>
<tr><td>'''Anomalies of'''</td></tr>
<tr><td>• Origin<td></tr>
<tr><td>• Course<td></tr>
<tr><td>• Number<td></tr>
<tr><td>• Diameter (aplasia,<br>hypoplasia, stenosis,<br>ectasia / aneurysm)<td></tr>
<tr><td>• Valves<td></tr>
<tr><td>• Communication (AVF)<td></tr>
<tr><td>• Persistence (of<br>embryonal vessel)<td></tr>
</table>|I04=<table class="wikitable">
<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>'''[[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>'''[[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>'''[[Proteus syndrome]]'''</td><td>CM, VM and/or LM + asymmetrical somatic 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">'''Macrocephaly-CM (M-CM / MCAP)'''</td></tr>
<tr><td colspan="2">'''Microcephaly-CM (MICCAP)'''</td></tr>
</table>|}}
{{Family tree | |!| | |}}
{{Family tree | |!| | |}}
{{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 malformation]] (AVM)|C05=[[Arteriovenous fistula]]}}
{{Family tree | |!| | | |!| | | |!| | | |!| | | |!| | | |}}
{{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>• [[Macrocystic  LM]]<td></tr>
<tr><td>• [[Microcystic LM]]<td></tr>
<tr><td>• [[Mixed cystic LM]]<td></tr>
</table>|F01=[[Common VM]]|G01=Sporadic|H01=Sporadic}}
{{Family tree | |!| | | |!| | | |!| | | |!| | | |!| | | |}}
{{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>• [[Nonsyndromic CM]]<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>• [[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]]|}}
{{Family tree | |!| | | |!| | | |!| | | |!| | | |!| | | |}}
{{Family tree | |)| D03 |)| E03 |)| F03 |)| G03 |)| H03 |D03=<table>
<tr><td>[[Reticulate CM]] </td></tr>
<tr><td>• CM of MIC-CAP (microcephaly-capillary malformation)<td></tr>
<tr><td>• CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)<td></tr>
</table>
|E03=LM in [[Gorham-Stout disease]]|F03=[[Blue rubber bleb nevus (Bean) syndrome]] VM|G03=In [[CM-AVM]]|H03=In [[CM-AVM]]|}}
{{Family tree | |!| | | |!| | | |!| | | |!| | | |!| | | | |}}
{{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 | |)| 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 | |)| D06 |)| E06 |)| F06 | | | | | | | | |D06=Others|E06=[[Primary lymphedema]] |F06=[[Familial intraosseous vascular malformation]] ([[VMOS]])|}}
{{Family tree | |!| | | |!| | | |!| | | | | | | | | | | |}}
{{Family tree | |`| D07 |`| E07 |)| F07 | | | | | | | | |D07=<table>
<tr><td>[[Telangiectasia]] </td></tr>
<tr><td>• [[Hereditary hemorrhagic telangiectasia]] (HHT) <td></tr>
<tr><td>• Others<td></tr>
</table>|E07=Others|F07=[[Verrucous venous malformation]] (formerly [[verrucous hemangioma]])|}}
{{Family tree | | | | | | | | | |!| | | | | | | | | | | |}}
{{Family tree | | | | | | | | | |`| F08 | | | | | | | | |F08=Others|}}
{{Family tree/end}}
'''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.


=====CM of CM-AVM=====
'''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>
* Usually multiple, these malformations can be round to oval, can vary from pink-red to tan,and are found in patches of 1 to 2 cm in size. These patches are scattered throughout the body and new ones may continue to appear throughout childhood. Sometimes a high flow murmur can be heard using Doppler device.<ref name="pmid18446851">{{cite journal |vauthors=Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M |title=Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations |journal=Hum. Mutat. |volume=29 |issue=7 |pages=959–65 |date=July 2008 |pmid=18446851 |doi=10.1002/humu.20746 |url=}}</ref>
* These are found in Capillary malformation-arteriovenous malformation syndrome, an autosomal dominant syndrome associated with mutations in RASA1.<ref name="pmid20007727">{{cite journal |vauthors=Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB |title=A novel association between RASA1 mutations and spinal arteriovenous anomalies |journal=AJNR Am J Neuroradiol |volume=31 |issue=4 |pages=775–9 |date=April 2010 |pmid=20007727 |doi=10.3174/ajnr.A1907 |url=}}</ref>


=====Cutis marmorata telangiectatica congenita (CMTC)=====
=Simple Vascular Malformations=
* A congenital, vascular malformation consisting of capillary and venous sized vessels. Presentation is similar to physiologic cutis marmorata with a fixed reticulate erythema but unlike physiologic cutis marmorata, the erythema does not resolve with warming and may be associated with skin ulceration, atrophy of the skin, and undergrowth of the involved extremity. <ref name="pmid10792796">{{cite journal |vauthors=Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A |title=Cutis marmorata telangiectatica congenita: clinical findings in 85 patients |journal=Pediatr Dermatol |volume=17 |issue=2 |pages=100–4 |date=2000 |pmid=10792796 |doi= |url=}}</ref> <ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref>
Simple Vascular Malformations are divided into:
* Findings may include prominent veins, telangiectasias, cutaneous atrophy, ulceration, and hyperkeratosis. May have localized or generalized appearance. In localized pattern, the lesions are confined to one side of the body, not crossing midline with or without sharp demarcation. <ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref>
*Capillary malformation
* May be associated with a number of other abnormalities, of which limb asymmetry is the most common. Others may include glaucoma, port wine stains, angiokeratomas, hemangiomas. It may also be associated with Sturge-Weber syndrome.<ref>Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J [serial online] 2014 [cited 2018 Sep 25];5:80-2. Available from: http://www.idoj.in/text.asp?2014/5/1/80/126042</ref> Most cases tend be sporadic but autosomal recessive pattern has been observed in familial cases.<ref name="urlCutis marmorata telangiectatica congenita - MeSH - NCBI">{{cite web |url=https://www.ncbi.nlm.nih.gov/mesh/?term=C536226 |title=Cutis marmorata telangiectatica congenita - MeSH - NCBI |format= |work= |accessdate=}}</ref>
*Lymphatic malformation
* Diagnosis is clinical and depends on history and examination. Management depends on the systemic involvement. Skin lesions tend to improve spontaneously.<ref name="pmid19196300">{{cite journal |vauthors=Kienast AK, Hoeger PH |title=Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria |journal=Clin. Exp. Dermatol. |volume=34 |issue=3 |pages=319–23 |date=April 2009 |pmid=19196300 |doi=10.1111/j.1365-2230.2008.03074.x |url=}}</ref><ref name="pmid10943257">{{cite journal |vauthors=Dohil MA, Baugh WP, Eichenfield LF |title=Vascular and pigmented birthmarks |journal=Pediatr. Clin. North Am. |volume=47 |issue=4 |pages=783–812, v–vi |date=August 2000 |pmid=10943257 |doi= |url=}}</ref>
*Venous malformation
*Arteriovenous malformation
*Arteriovenous fistula


=====Telangiectasia=====
=Combined Vascular Malformations=
* "Permanent dilation of preexisting blood vessels creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders."<ref name="urlTelangiectasis - MeSH - NCBI">{{cite web |url=+++++https://www.ncbi.nlm.nih.gov/mesh/?term=D013684 |title=Telangiectasis - MeSH - NCBI |format= |work= |accessdate=}}</ref> To learn about Hereditary hemorrhagic telangiectasia (HHT) click here.
{| class="wikitable"
! colspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Combined vascular malformations*
|-
| style="background:#7d7d7d; color: #FFFFFF;" align="center" + |CM + VM
|capillary-venous malformation
|CVM
|-
| style="background:#7d7d7d; color: #FFFFFF;" align="center" + |CM + LM
|capillary-lymphatic malformation
|CLM
|-
| style="background:#7d7d7d; color: #FFFFFF;" align="center" + |CM + AVM
|capillary-arteriovenous malformation
|CAVM
|-
| style="background:#7d7d7d; color: #FFFFFF;" align="center" + |LM + VM
|lymphatic-venous malformation
|LVM
|-
| style="background:#7d7d7d; color: #FFFFFF;" align="center" + |CM + LM + VM
|capillary-lymphatic-venous malformation
|CLVM
|-
| style="background:#7d7d7d; color: #FFFFFF;" align="center" + |CM + LM + AVM
|capillary-lymphatic-arteriovenous malformation
|CLAVM
|-
| style="background:#7d7d7d; color: #FFFFFF;" align="center" + |CM + VM + AVM
|capillary-venous-arteriovenous malformation
|CVAVM
|-
| style="background:#7d7d7d; color: #FFFFFF;" align="center" + |CM + LM + VM + AVM
|capillary-lymphatic-venous-arteriovenous m.
|CLVAVM
|-
| colspan="2" style="background:#F5F5F5;" + |<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>
|}
'''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.


====Lymphatic malformations (LM)====
=Vascular Malformations of Major Named Vessels=
=====Common (cystic) LM=====
{| class="wikitable" style="text-align:centre"
* benign lesions consisting of dilated lymphatic channels or cysts lined by cells of endothelial origin with lymphatic differentiation.<ref name="pmid26055853">{{cite journal |vauthors=Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M |title=Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies |journal=Pediatrics |volume=136 |issue=1 |pages=e203–14 |date=July 2015 |pmid=26055853 |doi=10.1542/peds.2014-3673 |url=}}</ref> If these lesions are associated with overgrowth then some of these lesions belong to the PIK3CA-related overgrowth spectrum. <ref>http://www.issva.org/UserFiles/file/ISSVA-Classification-2018.pdf</ref>
|+
* These are classified as follows:
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Anomalies of major named vessels
** Macrocystic  LM
(also known as "channel type" or "truncal" vascular malformations)
** Microcystic  LM
|-
** Mixed cystic LM
|'''Affect'''
*# '''Macrocystic  LM'''
*lymphatics
*#* Also called cystic hygroma, and cystic lymphangioma. A cystic growth consisting of large, interconnected lymphatic cysts lined by a thin endothelium. Usually found in neck, axilla and groin. Presents as a large, poorly delineated, translucent, soft cystic mass covered by normal skin.
*veins
*#* May be associated with chromosomal abnormalities such as Down syndrome, Turner syndrome. To learn more click here.
*arteries
*# '''Microcystic  LM'''
*#* Also known as 'lymphangioma circumscriptum', these lymphatic anomalies may be present at birth or may develop in first few years of life. Usual presentation is as a cluster of clear, translucent or hemorrhagic vesicles that may cause pressure symptoms as they grow in size.
*#* Usually affect deep seated structures and frequent locations are proximal extremities, trunk, axilla, and the oral cavity.
*#* Diagnosis is clinical and treatment options include surgery, sclerotherapy, radiotherapy, and laser therapy. Recently topical sirolimus has also been used.<ref name="pmid30133999">{{cite journal |vauthors=Çalışkan E, Altunel CT, Özkan CK, Tunca M |title=A case of microcystic lymphatic malformation successfully treated with topical sirolimus |journal=Dermatol Ther |volume= |issue= |pages=e12673 |date=August 2018 |pmid=30133999 |doi=10.1111/dth.12673 |url=}}</ref> To learn more click here.


=====Generalized lymphatic anomaly (GLA)=====
'''Anomalies of'''
* Diffuse or multicentric proliferation of dilated lymphatic vessels that may involve skin, bones, and internal organs. The proliferating vessels resemble common lymphatic malformations but the disease involvement is multi-system.<ref name="pmid29871646">{{cite journal |vauthors=Du H, Xiong M, Liao H, Luo Y, Shi H, Xie C |title=Chylothorax and constrictive pericarditis in a woman due to generalized lymphatic anomaly: a case report |journal=J Cardiothorac Surg |volume=13 |issue=1 |pages=59 |date=June 2018 |pmid=29871646 |pmc=5989411 |doi=10.1186/s13019-018-0752-3 |url=}}</ref><ref name="pmid29397482">{{cite journal |vauthors=Manevitz-Mendelson E, Leichner GS, Barel O, Davidi-Avrahami I, Ziv-Strasser L, Eyal E, Pessach I, Rimon U, Barzilai A, Hirshberg A, Chechekes K, Amariglio N, Rechavi G, Yaniv K, Greenberger S |title=Somatic NRAS mutation in patient with generalized lymphatic anomaly |journal=Angiogenesis |volume=21 |issue=2 |pages=287–298 |date=May 2018 |pmid=29397482 |doi=10.1007/s10456-018-9595-8 |url=}}</ref> Lungs, bones and mediastinum are most commonly affected but skin, liver and spleen are commonly affected as well. Liver, spleen, and thoracic duct involvement typically indicates worse prognosis.<ref name="pmid2709285">{{cite journal |vauthors=Levine C |title=Primary disorders of the lymphatic vessels--a unified concept |journal=J. Pediatr. Surg. |volume=24 |issue=3 |pages=233–40 |date=March 1989 |pmid=2709285 |doi= |url=}}</ref>
*origin
* Considered to b sporadic and non-hereditary, it may present in childhood or can be diagnosed later in life.<ref name="pmid10712360">{{cite journal |vauthors=Faul JL, Berry GJ, Colby TV, Ruoss SJ, Walter MB, Rosen GD, Raffin TA |title=Thoracic lymphangiomas, lymphangiectasis, lymphangiomatosis, and lymphatic dysplasia syndrome |journal=Am. J. Respir. Crit. Care Med. |volume=161 |issue=3 Pt 1 |pages=1037–46 |date=March 2000 |pmid=10712360 |doi=10.1164/ajrccm.161.3.9904056 |url=}}</ref><ref name="pmid23457676">{{cite journal |vauthors=Kadakia KC, Patel SM, Yi ES, Limper AH |title=Diffuse pulmonary lymphangiomatosis |journal=Can. Respir. J. |volume=20 |issue=1 |pages=52–4 |date=2013 |pmid=23457676 |pmc=3628648 |doi=10.1155/2013/971350 |url=}}</ref> Etiology is unknown but high levels of VEGFR-3 have been reported in patient population.
*course
* Chylothorax due to leakage of lymphtic fluid is commonly encountered and is difficult to treat.<ref name="pmid29906363">{{cite journal |vauthors=Ludwig KF, Slone T, Cederberg KB, Silva AT, Dellinger M |title=A New Case and Review of Chylothorax in Generalized Lymphatic Anomaly and Gorham-Stout Disease |journal=Lymphology |volume=49 |issue=2 |pages=73–84 |date=June 2016 |pmid=29906363 |doi= |url=}}</ref> Patient may present with respiratory symptoms such as chest pain, wheezing, SOB, cough, repeated infections or symptoms due to involvement of other organs such as bone pain, pathological fractures, pelvic or abdominal pain, swelling, fever, internal bleeding, skin lesions.<ref name="pmid29871646">{{cite journal |vauthors=Du H, Xiong M, Liao H, Luo Y, Shi H, Xie C |title=Chylothorax and constrictive pericarditis in a woman due to generalized lymphatic anomaly: a case report |journal=J Cardiothorac Surg |volume=13 |issue=1 |pages=59 |date=June 2018 |pmid=29871646 |pmc=5989411 |doi=10.1186/s13019-018-0752-3 |url=}}</ref><ref name="pmid11247693">{{cite journal |vauthors=Aviv RI, McHugh K, Hunt J |title=Angiomatosis of bone and soft tissue: a spectrum of disease from diffuse lymphangiomatosis to vanishing bone disease in young patients |journal=Clin Radiol |volume=56 |issue=3 |pages=184–90 |date=March 2001 |pmid=11247693 |doi=10.1053/crad.2000.0606 |url=}}</ref><ref name="pmid22196284">{{cite journal |vauthors=Satria MN, Pacheco-Rodriguez G, Moss J |title=Pulmonary lymphangiomatosis |journal=Lymphat Res Biol |volume=9 |issue=4 |pages=191–3 |date=2011 |pmid=22196284 |pmc=3246407 |doi=10.1089/lrb.2011.0023 |url=}}</ref><ref name="pmid23457676">{{cite journal |vauthors=Kadakia KC, Patel SM, Yi ES, Limper AH |title=Diffuse pulmonary lymphangiomatosis |journal=Can. Respir. J. |volume=20 |issue=1 |pages=52–4 |date=2013 |pmid=23457676 |pmc=3628648 |doi=10.1155/2013/971350 |url=}}</ref>
*number
* Diagnosis of GLA is very challenging and requires multidisciplinary input. It depends on history, examination, imaging studies such as MRI, contrast ultrasound, magnetic resonance lymphangiogram, CXR,near-infrared fluorescence lymphatic imaging, nanotechnology-based MRI agents and biopsy.<ref name="pmid29871646">{{cite journal |vauthors=Du H, Xiong M, Liao H, Luo Y, Shi H, Xie C |title=Chylothorax and constrictive pericarditis in a woman due to generalized lymphatic anomaly: a case report |journal=J Cardiothorac Surg |volume=13 |issue=1 |pages=59 |date=June 2018 |pmid=29871646 |pmc=5989411 |doi=10.1186/s13019-018-0752-3 |url=}}</ref><ref name="pmid24590275">{{cite journal |vauthors=Sevick-Muraca EM, Kwon S, Rasmussen JC |title=Emerging lymphatic imaging technologies for mouse and man |journal=J. Clin. Invest. |volume=124 |issue=3 |pages=905–14 |date=March 2014 |pmid=24590275 |pmc=3938259 |doi=10.1172/JCI71612 |url=}}</ref><ref name="pmid19913379">{{cite journal |vauthors=Lohrmann C, Foeldi E, Langer M |title=Assessment of the lymphatic system in patients with diffuse lymphangiomatosis by magnetic resonance imaging |journal=Eur J Radiol |volume=80 |issue=2 |pages=576–81 |date=November 2011 |pmid=19913379 |doi=10.1016/j.ejrad.2009.10.021 |url=}}</ref> Sometimes surgery is required that can be both diagnostic and therapeutic.<ref name="pmid29871646">{{cite journal |vauthors=Du H, Xiong M, Liao H, Luo Y, Shi H, Xie C |title=Chylothorax and constrictive pericarditis in a woman due to generalized lymphatic anomaly: a case report |journal=J Cardiothorac Surg |volume=13 |issue=1 |pages=59 |date=June 2018 |pmid=29871646 |pmc=5989411 |doi=10.1186/s13019-018-0752-3 |url=}}</ref>
*length
* Management is usually focused on symptomatic improvement. Options include chest drainage, open thorax surgery, sclerotherapy, surgical removal (debulking), lymphatic anastomosis and medical therapies such as sirolimus and interferon.<ref name="pmid29871646">{{cite journal |vauthors=Du H, Xiong M, Liao H, Luo Y, Shi H, Xie C |title=Chylothorax and constrictive pericarditis in a woman due to generalized lymphatic anomaly: a case report |journal=J Cardiothorac Surg |volume=13 |issue=1 |pages=59 |date=June 2018 |pmid=29871646 |pmc=5989411 |doi=10.1186/s13019-018-0752-3 |url=}}</ref>
*diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm)
*# '''Kaposiform lymphangiomatosis (KLA)'''
*valves
*#* A rare subtype with worse pronosis.<ref name="pmid25598153">{{cite journal |vauthors=Wang Z, Li K, Yao W, Dong K, Xiao X, Zheng S |title=Successful treatment of kaposiform lymphangiomatosis with sirolimus |journal=Pediatr Blood Cancer |volume=62 |issue=7 |pages=1291–3 |date=July 2015 |pmid=25598153 |doi=10.1002/pbc.25422 |url=}}</ref> Malformed vessels occur with cluster and sheets of spindle lymphatic endothelial cells.<ref name="pmid24252784">{{cite journal |vauthors=Croteau SE, Kozakewich HP, Perez-Atayde AR, Fishman SJ, Alomari AI, Chaudry G, Mulliken JB, Trenor CC |title=Kaposiform lymphangiomatosis: a distinct aggressive lymphatic anomaly |journal=J. Pediatr. |volume=164 |issue=2 |pages=383–8 |date=February 2014 |pmid=24252784 |pmc=3946828 |doi=10.1016/j.jpeds.2013.10.013 |url=}}</ref> Consumptive coagulopathy is also a feature.<ref name="pmid25307772">{{cite journal |vauthors=Fernandes VM, Fargo JH, Saini S, Guerrera MF, Marcus L, Luchtman-Jones L, Adams D, Meier ER |title=Kaposiform lymphangiomatosis: unifying features of a heterogeneous disorder |journal=Pediatr Blood Cancer |volume=62 |issue=5 |pages=901–4 |date=May 2015 |pmid=25307772 |doi=10.1002/pbc.25278 |url=}}</ref>
*communication (AVF)
*#* Intra-thoracic component is often the cause of mortality.<ref name="pmid24252784">{{cite journal |vauthors=Croteau SE, Kozakewich HP, Perez-Atayde AR, Fishman SJ, Alomari AI, Chaudry G, Mulliken JB, Trenor CC |title=Kaposiform lymphangiomatosis: a distinct aggressive lymphatic anomaly |journal=J. Pediatr. |volume=164 |issue=2 |pages=383–8 |date=February 2014 |pmid=24252784 |pmc=3946828 |doi=10.1016/j.jpeds.2013.10.013 |url=}}</ref> Currently there are no treatment guidelines.<ref name="pmid25598153">{{cite journal |vauthors=Wang Z, Li K, Yao W, Dong K, Xiao X, Zheng S |title=Successful treatment of kaposiform lymphangiomatosis with sirolimus |journal=Pediatr Blood Cancer |volume=62 |issue=7 |pages=1291–3 |date=July 2015 |pmid=25598153 |doi=10.1002/pbc.25422 |url=}}</ref>
*persistence (of embryonal vessel)
|-
| 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>  
|}
'''Abbreviations:''' AVF:arteriovenous fistula.


=====LM in Gorham-Stout disease=====
=Vascular Malformations associated With other Anomalies=
* Lymphatic malformation in Gorham-Stout disease affect a single or multiple bones and adjacent soft tissues, leading to progressive osteolysis and invasion of the bone cortex.<ref name="pmid8961021">{{cite journal |vauthors=Klein M, Metelmann HR, Gross U |title
{| class="wikitable" style="text-align:center"
! colspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Vascular malformations associated with other anomalies
|-
| colspan="2" |'''[[Klippel-Trenaunay syndrome]]*'''
|CM + VM +/-LM


==See also==
==See also==
Line 163: Line 283:


==References==
==References==
{{reflist}}
{{Reflist|2}}
 
{{Vascular diseases}}
{{Congenital vascular defects}}
 
[[Category:Vascular diseases]]
 
 
{{disease-stub}}

Latest revision as of 19:25, 26 October 2018

Vascular malformation
Classification and external resources
MeSH D054079

For information on vascular anomalies, click here

Vascular Malformation

Home

Overview

Classification

Simple Vascular Malformations
Capillary Malformation
Lymphatic Malformation
Venous Malformation
Arteriovenous Malformation
Arteriovenous Fistula
Combined Vascular Malformations
Vascular Malformations of Major Named Vessels
Vascular Malformations associated With other Anomalies

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 malformation is a blood vessel abnormality. There are many types, but the most common is arteriovenous malformation. Clinical behavior and growth cycles vary widely and it may cause clinical and aesthetic problems. International Society for the Study of Vascular Anomalies (ISSVA) has classified vascular malformation into simple malformation, combined malformation, those of major named vessels, and those associated with other anomalies. Simple malformation have been divided further into capillary malformation, venous malformation and lymphatic malformation.

Classification

 
 
 
 
 
 
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]

Simple Vascular Malformations

Simple Vascular Malformations are divided into:

  • Capillary malformation
  • Lymphatic malformation
  • Venous malformation
  • Arteriovenous malformation
  • Arteriovenous fistula

Combined Vascular Malformations

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

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.

Vascular Malformations of Major Named Vessels

Anomalies of major named vessels

(also known as "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)
Adapted from International Society for the Study of Vascular Anomalies[1]

Abbreviations: AVF:arteriovenous fistula.

Vascular Malformations associated With other 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 limb VM + bone undergrowth
Sturge-Weber syndrome facial + leptomeningeal CM + eye anomalies

+/-bone and/or soft tissue overgrowth

Limb CM + congenital non-progressive limb overgrowth
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 syndrome lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth
Adapted from International Society for the Study of Vascular Anomalies[1]

Abbreviations: CM:capillary malformation; VM:venous malformation; LM:lymphatic malformation; AVM: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.

Klippel-Trenaunay syndrome

For more information on Klippel-Trenaunay syndrome, click here

Parkes Weber syndrome

For more information on Parkes Weber syndrome, click here.

Servelle-Martorell syndrome

Sturge-Weber syndrome

For more information on Sturge-Weber syndrome, click here.

Maffucci syndrome

For more information on Maffucci syndrome, click here.

CLOVES syndrome

Proteus syndrome

For more information about Proteus syndrome, click here.

Bannayan-Riley-Ruvalcaba syndrome

For more information on Bannayan-Riley-Ruvalcaba syndrome, click here.

CLAPO syndrome

See also

References

  1. ↑ 1.0 1.1 1.2 1.3 "Classification | International Society for the Study of Vascular Anomalies".
  2. ↑ 2.0 2.1 Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM (2015). "Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?". Biomed Res Int. 2015: 786519. doi:10.1155/2015/786519. PMC 4588354. PMID 26451379.
  3. ↑ Withana M, Rodrigo C, Shivanthan MC, Warnakulasooriya S, Wimalachandra M, Gooneratne L, Rajapakse S (November 2014). "Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report". J Med Case Rep. 8: 390. doi:10.1186/1752-1947-8-390. PMC 4289367. PMID 25427442.
  4. ↑ 4.0 4.1 4.2 Ricks CB, Grandhi R, Ducruet AF (October 2014). "Klippel-Trenaunay syndrome and cavernous malformations". BMJ Case Rep. 2014. doi:10.1136/bcr-2014-207486. PMC 4187537. PMID 25293688.
  5. ↑ 5.0 5.1 5.2 5.3 5.4 Baba A, Yamazoe S, Okuyama Y, Shimizu K, Kobashi Y, Nozawa Y, Munetomo Y, Mogami T (February 2017). "A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs". J Surg Case Rep. 2017 (2): rjx024. doi:10.1093/jscr/rjx024. PMC 5400491. PMID 28458832.
  6. ↑ 6.0 6.1 Tetangco EP, Arshad HM, Silva R (August 2016). "Klippel-Trenaunay Syndrome of the Rectosigmoid Colon Presenting as Severe Anemia". ACG Case Rep J. 3 (4): e161. doi:10.14309/crj.2016.134. PMC 5126491. PMID 27921060.
  7. ↑ 7.0 7.1 7.2 Chagas C, Pires L, Babinski MA, Leite T (2017). "Klippel-Trenaunay and Parkes-Weber syndromes: two case reports". J Vasc Bras. 16 (4): 320–324. doi:10.1590/1677-5449.005417. PMC 5944310. PMID 29930667. Vancouver style error: initials (help)
  8. ↑ 8.0 8.1 8.2 Karuppal R, Raman RV, Valsalan BP, Gopakumar T, Kumaran CM, Vasu CK (May 2008). "Servelle-Martorell syndrome with extensive upper limb involvement: a case report". J Med Case Rep. 2: 142. doi:10.1186/1752-1947-2-142. PMC 2394530. PMID 18454870. Vancouver style error: initials (help)
  9. ↑ Langer M, Langer R (May 1982). "[Radiologic aspects of the congenital arteriovenous malformations, Klippel-Trenaunay type, and Servelle-Martorell type (author's transl)]". Rofo (in German). 136 (5): 577–82. doi:10.1055/s-2008-1056105. PMID 6284617.
  10. ↑ McCarthy CM, Blecher H, Reich S (June 2015). "A case of myelopathy because of enchondromas from Maffucci syndrome with successful surgical treatment". Spine J. 15 (6): e15–9. doi:10.1016/j.spinee.2015.03.006. PMID 25777744.
  11. ↑ 11.0 11.1 Tsao YP, Tsai CY, Chen WS (December 2015). "Maffucci Syndrome". J. Rheumatol. 42 (12): 2434–5. doi:10.3899/jrheum.150216. PMID 26628708.
  12. ↑ 12.0 12.1 12.2 Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H (February 2016). "Maffucci syndrome and neoplasms: a case report and review of the literature". BMC Res Notes. 9: 126. doi:10.1186/s13104-016-1913-x. PMC 4769492. PMID 26920730.
  13. ↑ Moriya K, Kaneko MK, Liu X, Hosaka M, Fujishima F, Sakuma J, Ogasawara S, Watanabe M, Sasahara Y, Kure S, Kato Y (March 2014). "IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome". Cancer Sci. 105 (3): 359–62. doi:10.1111/cas.12337. PMC 4317937. PMID 24344754.
  14. ↑ Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV (November 2011). "Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome". Nat. Genet. 43 (12): 1256–61. doi:10.1038/ng.1004. PMC 3427908. PMID 22057234.
  15. ↑ Al-Katib S, Al-Faham Z, Grant P, Palka JC (June 2015). "The Appearance of Maffucci Syndrome on 18F-FDG PET/CT". J Nucl Med Technol. 43 (2): 131–2. doi:10.2967/jnmt.114.146480. PMID 25537758.
  16. ↑ 16.0 16.1 16.2 16.3 Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB (October 2014). "Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes". Am. J. Med. Genet. A. 164A (10): 2633–7. doi:10.1002/ajmg.a.36672. PMC 4496426. PMID 25044986.
  17. ↑ 17.0 17.1 17.2 Sarici D, Akin MA, Kurtoglu S, Tubas F, Sarici SU (2014). "A Neonate with CLOVES Syndrome". Case Rep Pediatr. 2014: 845074. doi:10.1155/2014/845074. PMC 4221976. PMID 25400966.
  18. ↑ 18.0 18.1 Alomari AI, Burrows PE, Lee EY, Hedequist DJ, Mulliken JB, Fishman SJ (August 2010). "CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism". J. Thorac. Cardiovasc. Surg. 140 (2): 459–63. doi:10.1016/j.jtcvs.2010.04.023. PMID 20537357.
  19. ↑ 19.0 19.1 Gopal B, Keshava SN, Selvaraj D (2015). "A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome". Indian J Radiol Imaging. 25 (1): 71–3. doi:10.4103/0971-3026.150166. PMC 4329693. PMID 25709171.
  20. ↑ Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML (June 2012). "Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome". Am. J. Hum. Genet. 90 (6): 1108–15. doi:10.1016/j.ajhg.2012.05.006. PMC 3370283. PMID 22658544.
  21. ↑ 21.0 21.1 21.2 Rocha R, Estrella M, Amaral D, Barbosa AM, Abreu M (2017). "Proteus syndrome". An Bras Dermatol. 92 (5): 717–720. doi:10.1590/abd1806-4841.20174496. PMC 5674710. PMID 29166516. Vancouver style error: initials (help)
  22. ↑ 22.0 22.1 El-Sobky TA, Elsayed SM, El Mikkawy DM (December 2015). "Orthopaedic manifestations of Proteus syndrome in a child with literature update". Bone Rep. 3: 104–108. doi:10.1016/j.bonr.2015.09.004. PMC 5365241. PMID 28377973.
  23. ↑ 23.0 23.1 23.2 Hannoush H, Sachdev V, Brofferio A, Arai AE, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker LG, Keppler-Noreuil KM (January 2015). "Myocardial fat overgrowth in Proteus syndrome". Am. J. Med. Genet. A. 167A (1): 103–10. doi:10.1002/ajmg.a.36773. PMC 4275354. PMID 25377688.
  24. ↑ Sarman ZS, Yuksel N, Sarman H, Bayramgurler D (June 2014). "Proteus syndrome: report of a case with developmental glaucoma". Korean J Ophthalmol. 28 (3): 272–4. doi:10.3341/kjo.2014.28.3.272. PMC 4038735. PMID 24882963.
  25. ↑ Lindhurst MJ, Yourick MR, Yu Y, Savage RE, Ferrari D, Biesecker LG (December 2015). "Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome". Sci Rep. 5: 17162. doi:10.1038/srep17162. PMC 4675973. PMID 26657992.
  26. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Biesecker LG, Sapp JC. PMID 22876373. Vancouver style error: initials (help); Missing or empty |title= (help)
  27. ↑ 27.0 27.1 27.2 27.3 Gontijo GM, Pinto CA, Rogatto SR, Cunha IW, Aguiar S, Alves CA (2013). "Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report". An Bras Dermatol. 88 (6): 982–5. doi:10.1590/abd1806-4841.20132730. PMC 3900354. PMID 24474112.
  28. ↑ 28.0 28.1 Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A (2013). "Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome". J Clin Res Pediatr Endocrinol. 5 (4): 261–5. doi:10.4274/Jcrpe.984. PMC 3890226. PMID 24379037.
  29. ↑ 29.0 29.1 29.2 Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ (January 2014). "Bannayan Ruvalcaba Riley Syndrome". ACG Case Rep J. 1 (2): 90–2. doi:10.14309/crj.2014.11. PMC 4435287. PMID 26157835.
  30. ↑ 30.0 30.1 Downey C, López-Gutiérrez JC, Roé-Crespo E, Puig L, Baselga E (July 2018). "Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome". Pediatr Dermatol. 35 (4): e243–e244. doi:10.1111/pde.13514. PMID 29766551.
  31. ↑ 31.0 31.1 Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V (August 2018). "CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype". Genet. Med. 20 (8): 882–889. doi:10.1038/gim.2017.200. PMID 29446767.
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