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| ==Provisionally unclassified vascular anomalies==
| |
| ===Intramuscular hemangioma===
| |
| * Characterized by [[benign]] proliferation of [[vascular]] channels. Majority of [[lesions]] occur in [[subcutaneous]] [[adipose]] [[tissues]], followed by [[muscles]]. [[Thigh]] and [[calf]] are most common sites of occurrence. Majority of the [[lesions]] are [[asymptomatic]]. Typical clinical presentation includes chronic pain and swelling that both may increase with exercise of affected [[muscle]] due to increased [[blood]] flow. Other clinical manifestations may include pulsations, discoloration over the [[lesion]], [[lesion]] enlargement when in dependent position, increased temperature, [[muscle contracture]], tenderness, and [[muscle]] weakness and fatigue.<ref name="pmid25028288">{{cite journal |vauthors=Wang CS, Wu PK, Chiou HJ, Chen CF, Chen WM, Liu CL, Chen TH |title=Nonpalpable intramuscular hemangioma treated with hookwire localization and excision |journal=J Chin Med Assoc |volume=77 |issue=8 |pages=426–9 |date=August 2014 |pmid=25028288 |doi=10.1016/j.jcma.2014.02.017 |url=}}</ref><ref name="pmid25728120">{{cite journal |vauthors=Doddanna SJ, Dawar G, Rallan NS, Agarwal M |title=Intramuscular cavernous hemangioma: a rare entity in the buccinator muscle |journal=Indian J Dent Res |volume=25 |issue=6 |pages=813–5 |date=2014 |pmid=25728120 |doi=10.4103/0970-9290.152211 |url=}}</ref><ref name="pmid23845293">{{cite journal |vauthors=Righini CA, Berta E, Atallah I |title=Intramuscular cavernous hemangioma arising from the masseter muscle |journal=Eur Ann Otorhinolaryngol Head Neck Dis |volume=131 |issue=1 |pages=57–9 |date=February 2014 |pmid=23845293 |doi=10.1016/j.anorl.2013.03.003 |url=}}</ref><ref name="pmid25590509">{{cite journal |vauthors=Alami B, Lamrani Y, Addou O, Boubbou M, Kamaoui I, Maaroufi M, Sqalli N, Tizniti S |title=Presumptive intramuscular hemangioma of the masseter muscle |journal=Am J Case Rep |volume=16 |issue= |pages=16–9 |date=January 2015 |pmid=25590509 |pmc=4298281 |doi=10.12659/AJCR.890776 |url=}}</ref><ref name="pmid15155443">{{cite journal |vauthors=Brown RA, Crichton K, Malouf GM |title=Intramuscular haemangioma of the thigh in a basketball player |journal=Br J Sports Med |volume=38 |issue=3 |pages=346–8 |date=June 2004 |pmid=15155443 |pmc=1724833 |doi= |url=}}</ref><ref name="pmid28507959">{{cite journal |vauthors=Patnaik S, Kumar P, Nayak B, Mohapatra N |title=Intramuscular Arteriovenous Hemangioma of Thigh: A Case Report and Review of Literature |journal=J Orthop Case Rep |volume=6 |issue=5 |pages=20–23 |date=2016 |pmid=28507959 |pmc=5404154 |doi=10.13107/jocr.2250-0685.612 |url=}}</ref>
| |
| * Intramuscular hemangiomas may be associated with [[Kasabach-Merritt syndrome]] characterized by [[thrombocytopenia]] and/or consumptive [[coagulopathy]]. This [[lesion]] may also lead to functional impairment, [[congestive cardiac failure]] due to arteriovenous shunting, pressure symptoms, [[skin]] [[necrosis]] and may also erode [[bone]].<ref name="pmid15155443" />
| |
| * [[Etiology]] and [[pathophysiology]] are not clearly defined but majority of the [[lesions]] are congenital while a one fifth may be associated with trauma.<ref name="pmid24427416">{{cite journal |vauthors=Wierzbicki JM, Henderson JH, Scarborough MT, Bush CH, Reith JD, Clugston JR |title=Intramuscular hemangiomas |journal=Sports Health |volume=5 |issue=5 |pages=448–54 |date=September 2013 |pmid=24427416 |pmc=3752185 |doi=10.1177/1941738112470910 |url=}}</ref>
| |
| * [[MRI]] is the [[diagnostic]] study of choice although [[X-RAY]] and [[ultrasound]] may be used as initial studies. Treatment is generally not indicated for [[asymptomatic]] [[lesions]]. Management options for [[symptomatic]], complicated [[lesions]] and for cosmetic reasons may include [[laser ablation]], systemic [[corticosteroids]], [[cryotherapy]], [[embolization]], [[radiation]], compression [[sclerotherapy]], and [[surgical excision]] although surgical excision is usually treatment of choice in majority of the cases.<ref name="pmid24427416" /><ref name="pmid15155443" /><ref name="pmid28507959" /><ref name="pmid25028288" /><ref name="pmid25728120" /><ref name="pmid23845293" /><ref name="pmid25590509" />
| |
|
| |
| ===Angiokeratoma===
| |
| * A [[muco-cutaneous]] [[vascular]] [[lesion]] with wart-like papular appearance characterized by dilated [[capillaries]] in the [[dermis]] and [[hyperkeratotis]] of the overlying [[epidermis]]. Clinically it may manifest as solitary or multiple hyperkeratotic papules that may be localized or generalized, most typically on [[scrotum]], [[thighs]], lower extremity, [[abdomen]], [[trunk]], [[tongue]], [[penis]] and [[labia majora]]. Majority of the [[lesions]] are [[asymptomatic]] but some may ulcerate and/or bleed.<ref name="pmid25100920">{{cite journal |vauthors=Hussein RS, Kfoury H, Al-Faky YH |title=Eyelid angiokeratoma |journal=Middle East Afr J Ophthalmol |volume=21 |issue=3 |pages=287–8 |date=2014 |pmid=25100920 |pmc=4123288 |doi=10.4103/0974-9233.134702 |url=}}</ref><ref name="pmid16988295">{{cite journal |vauthors=Trickett R, Dowd H |title=Angiokeratoma of the scrotum: a case of scrotal bleeding |journal=Emerg Med J |volume=23 |issue=10 |pages=e57 |date=October 2006 |pmid=16988295 |pmc=2579622 |doi=10.1136/emj.2006.038745 |url=}}</ref><ref name="pmid26155544">{{cite journal |vauthors=Chowdappa V, Narasimha A, Bhat A, Masamatti SS |title=Solitary Angiokeratoma: Report of Two Uncommon Cases |journal=J Clin Diagn Res |volume=9 |issue=5 |pages=WD01–2 |date=May 2015 |pmid=26155544 |pmc=4484136 |doi=10.7860/JCDR/2015/12163.5946 |url=}}</ref>
| |
| * It may be classified into following entities:<ref name="pmid26155544" />
| |
| ** Fordyce’s angiokeratoma (arising on the genitals)
| |
| ** Mibelli’s angiokeratoma (dorsum of toes and fingers)
| |
| ** Angiokeratoma circumscriptum naeviforme (unilateral large keratotic plaques)
| |
| ** Angiokeratoma corporis diffusum (ACD) (generalized [[lesions]] between umbilicus and the knee)
| |
| * Angiokeratomas are more prevalent among [[males]] as compared to [[females]]. Increased [[venous]] pressure and [[radiation]] therapy have been cited as possible causes. Angiokeratomas have been associated with [[enzyme]] deficiencies such as alpha-galactosidase A ([[Fabry disease]]), α-fucosidase (fucosidosis), neuraminidase (sialodosis), aspartyl glycosaminase (aspartyl glucosaminuria), β-mannosidase (β- mannosidosis), α-N-acetyl galactosaminidase (Kansaki disease), and β-galactosidase (adult onset GM1 gangliosidosis).<ref name="pmid26155544" /><ref name="pmid25100920" /><ref name="pmid16988295" /><ref name="pmid26312700">{{cite journal |vauthors=Ghosh SK, Ghosh S, Agarwal M |title=Multiple giant angiokeratoma of Fordyce on the shaft of the penis masquerading as keratoacanthoma |journal=An Bras Dermatol |volume=90 |issue=3 Suppl 1 |pages=150–2 |date=2015 |pmid=26312700 |pmc=4540534 |doi=10.1590/abd1806-4841.20153876 |url=}}</ref><ref name="pmid19468654">{{cite journal |vauthors=Rees R, Freeman A, Malone P, Garaffa G, Muneer A, Minhas S |title=Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer |journal=ScientificWorldJournal |volume=9 |issue= |pages=339–42 |date=May 2009 |pmid=19468654 |pmc=5823195 |doi=10.1100/tsw.2009.23 |url=}}</ref>
| |
| * The [[diagnosis]] is mainly clinical but [[biopsy]] may be required. Associated [[enzyme]] deficiencies and systemic disorders must be ruled out. Treatment is generally not indicated but if so required then [[excision]], [[electrocautery]], [[cryotherapy]], or [[laser ablations]] are the options.<ref name="pmid25100920" /><ref name="pmid19468654" /><ref name="pmid26155544" /><ref name="pmid25118768">{{cite journal |vauthors=Vijay MK, Arava S |title=Solitary angiokeratoma of tongue: a rare entity clinically mistaken as a malignant tumor |journal=Indian J Pathol Microbiol |volume=57 |issue=3 |pages=510–1 |date=2014 |pmid=25118768 |doi=10.4103/0377-4929.138810 |url=}}</ref><ref name="pmid26312700" />
| |
|
| |
| ===Sinusoidal hemangioma===
| |
| * A variant of [[cavernous hemangioma]] characterized histopathologically by presence of dilated thin-walled [[vascular]] channels, that vary in size, exhibiting nodular proliferation with sinusoidal arrangement. [[Pseudopapillary]] structures may also be present. Clinically majority of the [[lesions]] manifest in [[female]] [[adults]] as single, well-defined, painless, [[subcutaneous]] nodule with bluish color. Most frequent locations are [[trunk]], [[extremities]] and [[breasts]]. Painless swelling is the most common [[patient]] complaint.<ref name="pmid24250102">{{cite journal |vauthors=Halawar SS, Venugopal R, Varsha B, Kavya B |title=Intramuscular sinusoidal hemangioma with Masson's lesion |journal=J Oral Maxillofac Pathol |volume=17 |issue=2 |pages=315–7 |date=May 2013 |pmid=24250102 |pmc=3830250 |doi=10.4103/0973-029X.119762 |url=}}</ref><ref name="pmid21892538">{{cite journal |vauthors=Ciurea M, Ciurea R, Popa D, Pârvănescu H, Marinescu D, Vrabete M |title=Sinusoidal hemangioma of the arm: case report and review of literature |journal=Rom J Morphol Embryol |volume=52 |issue=3 |pages=915–8 |date=2011 |pmid=21892538 |doi= |url=}}</ref>
| |
| * Abnormalities of [[vasculogenesis]] and [[angiogenesis]] have been proposed as possible [[pathogenesis]] but it is not well-established.<ref name="pmid21892538" />
| |
| * Combination of clinical manifestations and histopathological features is used for [[diagnosis]]. [[Surgery]] (wide excision of tumor) is the treatment of choice if treatment is required.<ref name="pmid21892538" /><ref name="pmid26729822">{{cite journal |vauthors=Konda P, Bavle RM, Makarla S, Muniswamappa S |title=Intramuscular sinusoidal haemangioma with secondary Masson's phenomenon |journal=BMJ Case Rep |volume=2016 |issue= |pages= |date=January 2016 |pmid=26729822 |pmc=4716435 |doi=10.1136/bcr-2013-201457 |url=}}</ref>
| |
|
| |
| ===Acral arteriovenous "tumour"===
| |
| * [[Congenital]] or acquired lesion manifesting clinically as [[asymptomatic]] mass or may present with pulsatile swelling, headache, localized throbbing pain, [[tinnitus]] and bleeding. Histopathologically they are characterized by [[arterio-venous]] connection without connecting [[capillary]] with or without intracranial component. The [[lesion]] derived its name from its acral distribution.<ref name="pmid25624933">{{cite journal |vauthors=Gupta R, Kayal A |title=Scalp arteriovenous malformations in young |journal=J Pediatr Neurosci |volume=9 |issue=3 |pages=263–6 |date=2014 |pmid=25624933 |pmc=4302550 |doi=10.4103/1817-1745.147587 |url=}}</ref><ref name="pmid29492122">{{cite journal |vauthors=Özkara E, Özbek Z, Özdemir AÖ, Arslantaş A |title=Misdiagnosed Case of Scalp Arteriovenous Malformation |journal=Asian J Neurosurg |volume=13 |issue=1 |pages=59–61 |date=2018 |pmid=29492122 |pmc=5820896 |doi=10.4103/1793-5482.181137 |url=}}</ref>
| |
| * [[Etiology]] can be classified as following: [[Congenital]], traumatic, infectious and inflammatory and [[familial]].<ref name="pmid25624933" />
| |
| * Although [[diagnosis]] can be made clinically, [[angiography]] is the gold standard [[diagnostic]] modality to [[diagnose]] and define the extent of the [[lesion]]. Management regimen may include [[surgical excision]], [[ligation]] of the supplying [[arteries]], [[embolization]], and intralesional [[sclerosing]] injection.<ref name="pmid29492122" />
| |
|
| |
| ===Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)===
| |
| * Rare [[congenital]] disorder characterized by proliferation of [[vascular]] channels in multiple [[organs]] associated with [[thrombocytopenia]] of variable degree. [[Lesions]] may manifest themselves on [[skin]], [[gastrointestinal tract]], [[lungs]], [[brain]], [[bone]], [[liver]], [[spleen]] and [[muscles]]. Majority of [[cutaneous]] [[lesions]] present as multiple red to blue papules, plaques, nodules on [[trunk]] and [[extremities]]. [[Gastrointestinal]] bleeding due to multiple [[hemorrhagic]] [[lesions]] is the cause of mortality in majority of the [[patients]]. Similar [[lesions]] in [[brain]] and [[lungs]] may cause severe [[cerebral edema]] and [[pulmonary hemorrhage]].<ref name="pmid26148948">{{cite journal |vauthors=Droitcourt C, Boccara O, Fraitag S, Favrais G, Dupuy A, Maruani A |title=Multifocal Lymphangioendotheliomatosis With Thrombocytopenia: Clinical Features and Response to Sirolimus |journal=Pediatrics |volume=136 |issue=2 |pages=e517–22 |date=August 2015 |pmid=26148948 |doi=10.1542/peds.2014-2410 |url=}}</ref><ref name="pmid22565464">{{cite journal |vauthors=Zegpi MS, Zavala A, del Puerto C, Cárdenas C, González S |title=Newborn with multifocal lymphangioendotheliomatosis with thrombocytopenia |journal=Indian J Dermatol Venereol Leprol |volume=78 |issue=3 |pages=409 |date=2012 |pmid=22565464 |doi=10.4103/0378-6323.95494 |url=}}</ref>
| |
| * Disease may manifest without [[cutaneous]] involvement or [[thrombocytopenia]]. [[Biopsy]] typically reveals proliferation of well differentiated [[vascular]] channels with intravascular [[papillary]] structure and thrombi, sometimes with hobnail appearance of lining [[endothelial cells]].<ref name="pmid26148948" /><ref name="pmid22565464" />
| |
| * [[Biopsy]] followed by histopathological and [[immunohistochemical]] are required for [[diagnosis]]. Management is not well-established and disorder has a poor [[prognosis]] with high mortality. Recently [[sirolimus]] and [[bevacizumab]] have been used to treat this diorder with some success.<ref name="pmid26148948" /><ref name="pmid22565464" /><ref name="pmid19101995">{{cite journal |vauthors=Kline RM, Buck LM |title=Bevacizumab treatment in multifocal lymphangioendotheliomatosis with thrombocytopenia |journal=Pediatr Blood Cancer |volume=52 |issue=4 |pages=534–6 |date=April 2009 |pmid=19101995 |doi=10.1002/pbc.21860 |url=}}</ref><ref name="pmid27282436">{{cite journal |vauthors=Lanöel A, Torres Huamani AN, Feliú A, Sala MJ, Alvarez M, Cervini AB |title=Multifocal Lymphangioendotheliomatosis with Thrombocytopenia: Presentation of Two Cases Treated with Sirolimus |journal=Pediatr Dermatol |volume=33 |issue=4 |pages=e235–9 |date=July 2016 |pmid=27282436 |doi=10.1111/pde.12879 |url=}}</ref>
| |
|
| |
| ===Fibro adipose vascular anomaly (FAVA)===
| |
| * [[Vascular]] [[disorder]] typically manifesting as infiltration of [[muscles]] by fibrofatty tissues, atypical [[venodilation]] associated with localized pain, and contracture of the affected [[muscles]]. Majority of the [[lesions]] involve [[calf]] [[muscles]] and may present as painful mass, [[contracture]] of the [[extremity]], and decreased dorsiflexion at ankle joint. [[Skin]] is not typically involved. Histological studies demonstrates fibrous and [[adipose tissue]] and congregations of [[venous]] channels with abnormal [[lymphatic]] component.<ref name="pmid25298836">{{cite journal |vauthors=Fernandez-Pineda I, Marcilla D, Downey-Carmona FJ, Roldan S, Ortega-Laureano L, Bernabeu-Wittel J |title=Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder |journal=Ann Vasc Dis |volume=7 |issue=3 |pages=316–9 |date=2014 |pmid=25298836 |pmc=4180696 |doi=10.3400/avd.cr.14-00049 |url=}}</ref><ref name="pmid24322574">{{cite journal |vauthors=Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, Govender P, Padua HM, Dillon B, Upton J, Taghinia AH, Fishman SJ, Mulliken JB, Fevurly RD, Greene AK, Landrigan-Ossar M, Paltiel HJ, Trenor CC, Kozakewich HP |title=Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity |journal=J Pediatr Orthop |volume=34 |issue=1 |pages=109–17 |date=January 2014 |pmid=24322574 |doi=10.1097/BPO.0b013e3182a1f0b8 |url=}}</ref>
| |
| * [[Somatic]] activating [[mutations]] in PIK3CA that encodes phosphatidylinositol 3-kinase (PI3K), an [[enzyme]] functioning in cell growth, proliferation, differentiation, and survival.<ref name="urlwww.issva.org">{{cite web |url=http://www.issva.org/UserFiles/file/ISSVA-Classification-2018.pdf |title=www.issva.org |format= |work= |accessdate=}}</ref>
| |
| * Clinical and [[radiological]] findings are often sufficient to form the [[diagnosis]]. Inconclusive cases my require [[biopsy]]. [[Surgical resection]] is the often the preferred treatment and is more effective than [[sclerotherapy]], the alternative therapy.<ref name="pmid25298836" /><ref name="pmid24322574" />
| |
| ==See also== | | ==See also== |
| * [[Vascular disease]] | | * [[Vascular disease]] |
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 malformations
- Lymphatic malformations
- Venous malformations
- Arteriovenous malformations**
- Arteriovenous fistula**
|
- 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
|
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
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 + 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 | CLVM |
| CM + VM + AVM | Capillary-venous-arteriovenous malformation | CVAVM |
| CM + LM + VM + AVM | Capillary-lymphatic-venous-arteriovenous malformation | CLVAVM |
| |
(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 syndrome | CM + VM +/-LM + limb overgrowth |
| Parke's 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 |
| Maffucci syndrome | VM +/-spindle-cell hemangioma + enchondroma |
| CLOVES syndrome | LM + VM + CM +/-AVM+ lipomatous overgrowth |
| Proteus syndrome | CM, VM and/or LM + asymmetrical somatic overgrowth |
| Bannayan-Riley-Ruvalcaba sd | lower 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 | | | | | | | | | |
|
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.
|
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
|
See also
References