Provisionally unclassified vascular anomalies: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
'''For information on vascular anomalies, [[Vascular anomalies|click here]]''' | '''For information on vascular anomalies, [[Vascular anomalies|click here]]''' | ||
{{Vascular anomalies}} | {{Vascular anomalies}} | ||
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==Overview== | ==Overview== | ||
'''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]]. | |||
==Provisionally unclassified vascular anomalies== | ==Provisionally unclassified vascular anomalies== | ||
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! style="background:#4479BA; color: #FFFFFF;" align="center" + |Provisionally unclassified vascular anomalies | ! style="background:#4479BA; color: #FFFFFF;" align="center" + |Provisionally unclassified vascular anomalies | ||
|- | |- | ||
|Intramuscular hemangioma * | |[[Intramuscular hemangioma]]* | ||
|- | |- | ||
|Angiokeratoma | |[[Angiokeratoma]] | ||
|- | |- | ||
|Sinusoidal hemangioma | |[[Sinusoidal hemangioma]] | ||
|- | |- | ||
|Acral arteriovenous "tumour" | |[[Acral arteriovenous "tumour"]] | ||
|- | |- | ||
|Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral | |[[Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)]] | ||
|- | |- | ||
|PTEN (type) hamartoma of soft tissue / "angiomatosis" of soft tissue | |PTEN (type) hamartoma of soft tissue / "angiomatosis" of soft tissue | ||
(PHOST) | (PHOST) | ||
|- | |- | ||
|Fibro adipose vascular anomaly (FAVA) | |[[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. | |||
|- | |- | ||
| style="background:# | | 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 | International Society for the Study of Vascular Anomalies |format= |work= |accessdate=}}</ref></small> | ||
|} | |} | ||
===Intramuscular hemangioma=== | ===Intramuscular hemangioma=== | ||
* | * Intramuscular heamangioma is characterized by [[benign]] proliferation of [[vascular]] channels. Majority of [[lesions]] occur in [[subcutaneous]] [[adipose]] [[tissues]], followed by [[muscles]]. [[Thigh]] and [[Calf (anatomy)|calf]] are most common sites of occurrence. Majority of the [[lesions]] are [[asymptomatic]]. Typical clinical presentation includes chronic [[pain]] and [[swelling]], 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, [[Contracture|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" /> | * 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> | * [[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 | * [[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=== | ===Angiokeratoma=== | ||
* | * Angiokeratoma is a [[mucocutaneous]] [[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" /> | * It may be classified into following entities:<ref name="pmid26155544" /> | ||
** Fordyce’s angiokeratoma (arising on the genitals) | ** Fordyce’s angiokeratoma (arising on the [[genitals]]) | ||
** Mibelli’s angiokeratoma (dorsum of toes and fingers) | ** Mibelli’s angiokeratoma (dorsum of [[toes]] and [[fingers]]) | ||
** Angiokeratoma circumscriptum naeviforme (unilateral large keratotic plaques) | ** Angiokeratoma circumscriptum naeviforme (unilateral large keratotic plaques) | ||
** Angiokeratoma corporis diffusum (ACD) (generalized [[lesions]] between umbilicus and the knee) | ** 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> | * 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 deficiency|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" /> | * 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" /> | ||
For more information on [[ | For more information on [[angiokeratoma]], [[Angiokeratoma#Angiokeratoma|click here]]. | ||
===Sinusoidal hemangioma=== | ===Sinusoidal hemangioma=== | ||
* | * Sinusoidal hemangioma is 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" /> | * 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> | * 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> | ||
For more information on [[ | For more information on [[cavernous angioma]], [[Cavernous angioma#Cavernous angioma|click here]]. | ||
===Acral arteriovenous "tumour"=== | ===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> | * [[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" /> | * [[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 | * 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)=== | ===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> | * 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" /> | * 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 | * [[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 disorder 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)=== | ===Fibro adipose vascular anomaly (FAVA)=== | ||
Latest revision as of 18:11, 22 October 2018
For information on vascular anomalies, click here
|
Vascular Anomalies |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2]
Overview
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.
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] | |
Intramuscular hemangioma
- Intramuscular heamangioma is 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, 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.[2][3][4][5][6][7]
- 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.[6]
- Etiology and pathophysiology are not clearly defined but majority of the lesions are congenital while a one-fifth may be associated with trauma.[8]
- 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.[8][6][7][2][3][4][5]
Angiokeratoma
- Angiokeratoma is a mucocutaneous 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.[9][10][11]
- It may be classified into following entities:[11]
- 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).[11][9][10][12][13]
- 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.[9][13][11][14][12]
For more information on angiokeratoma, click here.
Sinusoidal hemangioma
- Sinusoidal hemangioma is 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.[15][16]
- Abnormalities of vasculogenesis and angiogenesis have been proposed as possible pathogenesis but it is not well-established.[16]
- 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.[16][17]
For more information on cavernous angioma, click here.
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.[18][19]
- Etiology can be classified as following: Congenital, traumatic, infectious and inflammatory and familial.[18]
- 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.[19]
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.[20][21]
- 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.[20][21]
- 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 disorder with some success.[20][21][22][23]
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.[24][25]
- Somatic activating mutations in PIK3CA that encodes phosphatidylinositol 3-kinase (PI3K), an enzyme functioning in cell growth, proliferation, differentiation, and survival.[26]
- 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.[24][25]
References
- ↑ "Classification | International Society for the Study of Vascular Anomalies".
- ↑ 2.0 2.1 Wang CS, Wu PK, Chiou HJ, Chen CF, Chen WM, Liu CL, Chen TH (August 2014). "Nonpalpable intramuscular hemangioma treated with hookwire localization and excision". J Chin Med Assoc. 77 (8): 426–9. doi:10.1016/j.jcma.2014.02.017. PMID 25028288.
- ↑ 3.0 3.1 Doddanna SJ, Dawar G, Rallan NS, Agarwal M (2014). "Intramuscular cavernous hemangioma: a rare entity in the buccinator muscle". Indian J Dent Res. 25 (6): 813–5. doi:10.4103/0970-9290.152211. PMID 25728120.
- ↑ 4.0 4.1 Righini CA, Berta E, Atallah I (February 2014). "Intramuscular cavernous hemangioma arising from the masseter muscle". Eur Ann Otorhinolaryngol Head Neck Dis. 131 (1): 57–9. doi:10.1016/j.anorl.2013.03.003. PMID 23845293.
- ↑ 5.0 5.1 Alami B, Lamrani Y, Addou O, Boubbou M, Kamaoui I, Maaroufi M, Sqalli N, Tizniti S (January 2015). "Presumptive intramuscular hemangioma of the masseter muscle". Am J Case Rep. 16: 16–9. doi:10.12659/AJCR.890776. PMC 4298281. PMID 25590509.
- ↑ 6.0 6.1 6.2 Brown RA, Crichton K, Malouf GM (June 2004). "Intramuscular haemangioma of the thigh in a basketball player". Br J Sports Med. 38 (3): 346–8. PMC 1724833. PMID 15155443.
- ↑ 7.0 7.1 Patnaik S, Kumar P, Nayak B, Mohapatra N (2016). "Intramuscular Arteriovenous Hemangioma of Thigh: A Case Report and Review of Literature". J Orthop Case Rep. 6 (5): 20–23. doi:10.13107/jocr.2250-0685.612. PMC 5404154. PMID 28507959.
- ↑ 8.0 8.1 Wierzbicki JM, Henderson JH, Scarborough MT, Bush CH, Reith JD, Clugston JR (September 2013). "Intramuscular hemangiomas". Sports Health. 5 (5): 448–54. doi:10.1177/1941738112470910. PMC 3752185. PMID 24427416.
- ↑ 9.0 9.1 9.2 Hussein RS, Kfoury H, Al-Faky YH (2014). "Eyelid angiokeratoma". Middle East Afr J Ophthalmol. 21 (3): 287–8. doi:10.4103/0974-9233.134702. PMC 4123288. PMID 25100920.
- ↑ 10.0 10.1 Trickett R, Dowd H (October 2006). "Angiokeratoma of the scrotum: a case of scrotal bleeding". Emerg Med J. 23 (10): e57. doi:10.1136/emj.2006.038745. PMC 2579622. PMID 16988295.
- ↑ 11.0 11.1 11.2 11.3 Chowdappa V, Narasimha A, Bhat A, Masamatti SS (May 2015). "Solitary Angiokeratoma: Report of Two Uncommon Cases". J Clin Diagn Res. 9 (5): WD01–2. doi:10.7860/JCDR/2015/12163.5946. PMC 4484136. PMID 26155544.
- ↑ 12.0 12.1 Ghosh SK, Ghosh S, Agarwal M (2015). "Multiple giant angiokeratoma of Fordyce on the shaft of the penis masquerading as keratoacanthoma". An Bras Dermatol. 90 (3 Suppl 1): 150–2. doi:10.1590/abd1806-4841.20153876. PMC 4540534. PMID 26312700.
- ↑ 13.0 13.1 Rees R, Freeman A, Malone P, Garaffa G, Muneer A, Minhas S (May 2009). "Case study: the surgical management of angiokeratoma resulting from radiotherapy for penile cancer". ScientificWorldJournal. 9: 339–42. doi:10.1100/tsw.2009.23. PMC 5823195. PMID 19468654.
- ↑ Vijay MK, Arava S (2014). "Solitary angiokeratoma of tongue: a rare entity clinically mistaken as a malignant tumor". Indian J Pathol Microbiol. 57 (3): 510–1. doi:10.4103/0377-4929.138810. PMID 25118768.
- ↑ Halawar SS, Venugopal R, Varsha B, Kavya B (May 2013). "Intramuscular sinusoidal hemangioma with Masson's lesion". J Oral Maxillofac Pathol. 17 (2): 315–7. doi:10.4103/0973-029X.119762. PMC 3830250. PMID 24250102.
- ↑ 16.0 16.1 16.2 Ciurea M, Ciurea R, Popa D, Pârvănescu H, Marinescu D, Vrabete M (2011). "Sinusoidal hemangioma of the arm: case report and review of literature". Rom J Morphol Embryol. 52 (3): 915–8. PMID 21892538.
- ↑ Konda P, Bavle RM, Makarla S, Muniswamappa S (January 2016). "Intramuscular sinusoidal haemangioma with secondary Masson's phenomenon". BMJ Case Rep. 2016. doi:10.1136/bcr-2013-201457. PMC 4716435. PMID 26729822.
- ↑ 18.0 18.1 Gupta R, Kayal A (2014). "Scalp arteriovenous malformations in young". J Pediatr Neurosci. 9 (3): 263–6. doi:10.4103/1817-1745.147587. PMC 4302550. PMID 25624933.
- ↑ 19.0 19.1 Özkara E, Özbek Z, Özdemir AÖ, Arslantaş A (2018). "Misdiagnosed Case of Scalp Arteriovenous Malformation". Asian J Neurosurg. 13 (1): 59–61. doi:10.4103/1793-5482.181137. PMC 5820896. PMID 29492122.
- ↑ 20.0 20.1 20.2 Droitcourt C, Boccara O, Fraitag S, Favrais G, Dupuy A, Maruani A (August 2015). "Multifocal Lymphangioendotheliomatosis With Thrombocytopenia: Clinical Features and Response to Sirolimus". Pediatrics. 136 (2): e517–22. doi:10.1542/peds.2014-2410. PMID 26148948.
- ↑ 21.0 21.1 21.2 Zegpi MS, Zavala A, del Puerto C, Cárdenas C, González S (2012). "Newborn with multifocal lymphangioendotheliomatosis with thrombocytopenia". Indian J Dermatol Venereol Leprol. 78 (3): 409. doi:10.4103/0378-6323.95494. PMID 22565464.
- ↑ Kline RM, Buck LM (April 2009). "Bevacizumab treatment in multifocal lymphangioendotheliomatosis with thrombocytopenia". Pediatr Blood Cancer. 52 (4): 534–6. doi:10.1002/pbc.21860. PMID 19101995.
- ↑ Lanöel A, Torres Huamani AN, Feliú A, Sala MJ, Alvarez M, Cervini AB (July 2016). "Multifocal Lymphangioendotheliomatosis with Thrombocytopenia: Presentation of Two Cases Treated with Sirolimus". Pediatr Dermatol. 33 (4): e235–9. doi:10.1111/pde.12879. PMID 27282436.
- ↑ 24.0 24.1 Fernandez-Pineda I, Marcilla D, Downey-Carmona FJ, Roldan S, Ortega-Laureano L, Bernabeu-Wittel J (2014). "Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder". Ann Vasc Dis. 7 (3): 316–9. doi:10.3400/avd.cr.14-00049. PMC 4180696. PMID 25298836.
- ↑ 25.0 25.1 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 (January 2014). "Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity". J Pediatr Orthop. 34 (1): 109–17. doi:10.1097/BPO.0b013e3182a1f0b8. PMID 24322574.
- ↑ "www.issva.org" (PDF).