Vascular anomalies: Difference between revisions
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* [[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> | * [[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" /> | * 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" /> | ||
==References== | |||
{{Reflist|2}} | |||
Revision as of 17:45, 10 October 2018
|
Vascular 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 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 | |
|
|
For details, Click here |
For details, Click here | For details, Click here |
|
* Defined as two or more vascular malformations found in one lesion | ||||
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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hemangioendothelioma not otherwise specified | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
'
| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
*
| (also known as "channel type" or "truncal" vascular malformations)
|
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Capillary malformations (CM) | Lymphatic malformations (LM) | Venous malformations (VM) | Arteriovenous malformation(AVM) | Arteriovenous fistula | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nevus simplex / salmon patch, “angel kiss”, “stork bite” |
| Common VM | Sporadic | Sporadic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Generalized lymphatic anomaly (GLA) Kaposiform lymphangiomatosis (KLA) | Familial VM cutaneo-mucosal (VMCM) | In HHT | In HHT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Others | Verrucous venous malformation (formerly verrucous hemangioma) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
| Anomalies of major named vessels
(also known as "channel type" or "truncal" vascular malformations) |
|---|
Affect
Anomalies of
|
| 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.
| 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 sd | lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth | |
| 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
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.[1][2][3][4][5][6]
- 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.[5]
- Etiology and pathophysiology are not clearly defined but majority of the lesions are congenital while a one fifth may be associated with trauma.[7]
- 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.[7][5][6][1][2][3][4]
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.[8][9][10]
- It may be classified into following entities:[10]
- 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).[10][8][9][11][12]
- 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.[8][12][10][13][11]
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.[14][15]
- Abnormalities of vasculogenesis and angiogenesis have been proposed as possible pathogenesis but it is not well-established.[15]
- 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.[15][16]
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.[17][18]
- Etiology can be classified as following: Congenital, traumatic, infectious and inflammatory and familial.[17]
- 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.[18]
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.[19][20]
- 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.[19][20]
- 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.[19][20][21][22]
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.[23][24]
- Somatic activating mutations in PIK3CA that encodes phosphatidylinositol 3-kinase (PI3K), an enzyme functioning in cell growth, proliferation, differentiation, and survival.[25]
- 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.[23][24]
References
- ↑ 1.0 1.1 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.
- ↑ 2.0 2.1 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.
- ↑ 3.0 3.1 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.
- ↑ 4.0 4.1 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.
- ↑ 5.0 5.1 5.2 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.
- ↑ 6.0 6.1 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.
- ↑ 7.0 7.1 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.
- ↑ 8.0 8.1 8.2 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.
- ↑ 9.0 9.1 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.
- ↑ 10.0 10.1 10.2 10.3 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.
- ↑ 11.0 11.1 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.
- ↑ 12.0 12.1 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.
- ↑ 15.0 15.1 15.2 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.
- ↑ 17.0 17.1 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.
- ↑ 18.0 18.1 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.
- ↑ 19.0 19.1 19.2 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.
- ↑ 20.0 20.1 20.2 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.
- ↑ 23.0 23.1 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.
- ↑ 24.0 24.1 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).