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

Overview

Vascular Anomalies
Vascular Tumors Vascular Malformations
Benign

Locally aggressive or

Borderline

Malignant

Simple Combined° of major named vessels associated with other anomalies
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

See details See list

° defined as two or more vascular malformations found in one lesion

* high flow lesions

Classification

Classification of Vascular Malformations

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Vascular malformations
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Simple
 
 
 
 
 
 
 
Combined
 
 
 
 
 
 
 
 
 
of major named vessels
 
 
 
 
 
 
 
asscoiated with other anomalies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Combined vascular malformations*
CM + VMCapillary-venous malformationCVM
CM + LMCapillary-lymphatic malformationCLM
CM + AVMCapillary-arteriovenous malformationCAVM
LM + VMLymphatic-venous malformationLVM
CM + LM + VMCapillary-lymphatic-venous malformationCLVM
CM + LM + AVMCapillary-lymphatic-arteriovenous malformationCLVM
CM + VM + AVMCapillary-venous-arteriovenous malformationCVAVM
CM + LM + VM + AVMCapillary-lymphatic-venous-arteriovenous malformationCLVAVM
 
 
 
 
 
 
 
 
 
Anomalies of major named vessels
(also known as "channel type" or "truncal" vascular malformations)
 
 
 
 
 
 
 
Vascular malformations associated with other anomalies
Klippel-Trenaunay syndromeCM + VM +/-LM + limb overgrowth
Parke's Weber syndromeCM + AVF + limb overgrowth
Servelle-Martorell syndromeLimb VM + bone undergrowth
Sturge-Weber syndromeFacial + leptomeningeal CM + eye anomalies +/-bone and/or soft tissue overgrowth
Maffucci syndromeVM +/-spindle-cell hemangioma + enchondroma
CLOVES syndromeLM + VM + CM +/-AVM+ lipomatous overgrowth
Proteus syndromeCM, VM and/or LM + asymmetrical somatic overgrowth
Bannayan-Riley-Ruvalcaba sdlower 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
 
 
Lymphatic malformations
 
 
Venous malformations
 
 
Arteriovenous malformations
 
 
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
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Tables

Anomalies of major named vessels

(also known as "channel type" or "truncal" vascular malformations)

Affect 
  lymphatics
  veins
  arteries

Anomalies of 

  origin
  course
  number
  length
  diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm)
  valves
  communication (AVF)
  persistence (of embryonal vessel)
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


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

Vascular Tumors

Locally aggressive or borderline vascular tumors

Kaposiform hemangioendothelioma

  • Locally Aggressive tumor that originates on skin and occurs primarily in childhood.[1] It is characterized by a single or multiple masses with following characteristics:
     ** Deep reddish-purple color
     ** Shiny, firm texture
     ** Warm to the touch
     ** Swollen and painful
  • May be complicated by Kasabach-Merritt phenomenon (KMP), characterized by consumption coagulopathy, thrombocytopenia, and hemolytic anemia.[2] Typical features also include low fibrinogen and elevated D-dimers.
  • Somatic activating GNA14 c.614A>T (p.Gln205Leu) mutations have been found in some KHE.[3]
  • Invasion of bone, retroperitoneum, and mediastinum has occured in some cases but no case of metastasis has been reported yet. [4]
  • Diagnostic work up may include blood tests, biopsy, contrast enhanced ultrasound and MRI or CT scan imaging.
  • Treatment Options include steroid, vincristine, interferon alpha, anti-platelet agents, sirolimus-containing therapies and surgery.[5]

Retiform hemangioendothelioma

  • First described in 1994 as a form of low grade angiosarcoma[6], Retiform hemangioendothelioma commonly presents as a slow growing asymptomatic solitary nodule or plaque on distal extremities in 2nd-4th decade of life.
  • Must be differentiated from Angiosarcoma.
  • High level of local recurrence but very low potential for metastasis.
  • Diagnostic work up includes histopathological studies, that shows arborizing blood vessels are arranged in retiform pattern [7], and MRI.
  • Surgery is the treatment of choice, though 2/3rd cases recur. Adjuvant radiotherapy and ddjuvant chemotherapy with recombinant interferon alpha and low dose cisplatin have also been reported in selected cases. [8]

Papillary intralymphatic angioendothelioma (PILA), Dabska tumor

  • First described in 1969 by Dabska,this rare vascular neoplasm generally occurs in soft tissues but can also occur in bone. They usually appear as painless inflammatory irregular or nodular lesions below the skin surface.
  • The distinctive feature on histopathology is the intravascular growth of well-differentiated endothelial cells presenting as a matchstick columnar configuration.[9]
  • They are locally aggressive but rarely metastasize. Locally recurrence after surgery is very common.
  • Diagnostic studies may include histopathological studies, fine needle aspiration, MRI and Ct scan.[10]
  • Wide local excision is the treatment of choice. However any combination of steroids, chemotherapy, radiation therapy, and invasive procedures can be used to treat this tumor.[11]

Composite hemangioendothelioma

  • A rare vascular neoplasms, characterized by an admixture of benign, low-grade malignant, and malignant vascular components, the ratio of each component can vary. They can occur in any age group.[12]
  • They occur predominantly as long-standing lesions in the dermis and subcutis of the extremities, but can also occur at other sites, including the oral cavity and in viscera such as kidney and spleen.[13]
  • It may recur locally and has the potential to metastasize. Recurrence was found to be in 8/10 cases in some studies. [14]
  • Diagnostic work up must include biopsy because of heterogeneity of lesions and it must be differentiated from other vascular tumors.[15]
  • Surgical excision is the treatment of choice although some patients have been treated with interferon and electron beams.[16]

Pseudomyogenic hemangioendothelioma

  • A locally aggressive tumor with endothelial differentiation that usually presents as multiple asymptomatic discontinuous lesions, often at extremities.[17][18]
  • SERPINE1-FOSB fusions are characteristic that result in over-expression of truncated form of FOSB.[19] FBJ murine osteosarcoma viral oncogene homolog B, also known as Finkel-Biskis-Jinkins murine osteosarcoma viral oncogene homolog B, FOSB or FosB, is a protein that, in humans have been implicated as regulators of cell proliferation, differentiation, and transformation.[20]
  • It may mimic epithelioid sarcoma on histology but metastasis is very rare and prognosis is excellent.[21]
  • Diagnostic work up includes X-ray, MRI, CT scan and biopsy of the lesion.
  • Excision is the typical treatment but chemotherapeutic agents including gemcitabine/taxane and mammalian target of rapamycin inhibitor [22], mTOR inhibitors such as sirolimus [23], VEGFR1-4/PDGFRA inhibitors such as telatinib [24] have been used with success in various studies.

Polymorphous hemangioendothelioma

  • A rare vascular neoplasm, Polymorphous hemangioendothelioma occurs in lymph nodes, but a few cases have been found in extra-nodal sites such as the mediastinum, spinal cord, and liver. It is a very rare cause of persistent lymphadenopathy. The data on natural history and clinical presentation is limited due to very few number of cases reported. [25]
  • Characterized by a polymorphous blend of solid, primitive vascular and angiomatous areas in varied proportions on microscopic examination. [26]
  • Diagnotic work up includes histopathological examination, MRI and Ct scan.
  • Wide local excision[27] has been used for treatment, with radiation therapy in case of recurrence[28].

Kaposi sarcoma

  • An AIDS-associated vascular malignancy that usually presents as mucocutaneous lesions [29] but can also occur in viscera such as lungs. It can remain confined to skin but widespread visceral involvement may occur.
  • There are three known variants
** One variant occurs spontaneously in Jewish and Italian males in Europe and the United States.
** Another more aggressive variant is endemic in young children is endemic in Africa. 
** A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients.[30] HHV-8 is the suspected cause.[31]
  • To learn more about KS, click here.

Malignant vascular tumors

Angiosarcoma

  • Angiosarcoma(AS) is malignancy that presents with a very heterogeneous distribution in the human body with aggressive clinical course, and may appear in multiple locations, from breast to liver or skin.[32]
  • Associated with MYC gene amplification and protein overexpression[33]. Myc is a family of regulator genes and proto-oncogenes that code for transcription factors.
  • Complete surgical excision and radiotherapy are the main treatments, with a minor role of chemotherapy[34].
  • To learn more about angiosarcoma click here.

Physiology

Medical Therapy

Naural History

Historical Perspective

References

  1. ↑ C537007
  2. ↑ D059885
  3. ↑ 27476652
  4. ↑ C537007
  5. ↑ 30054848
  6. ↑ 25484427
  7. ↑ 25484427
  8. ↑ 25484427
  9. ↑ © 1999 Lippincott Williams & Wilkins, Inc.
  10. ↑ https://www.dovemed.com/diseases-conditions/papillary-intralymphatic-angioendothelioma-pila/
  11. ↑ https://www.dovemed.com/diseases-conditions/papillary-intralymphatic-angioendothelioma-pila/
  12. ↑ 29233122
  13. ↑ 26050262
  14. ↑ https://www.jpatholtm.org/upload/pdf/kjp-40-2-142.pdf
  15. ↑ 29233122
  16. ↑ 29233122
  17. ↑ 29511030
  18. ↑ 29406432
  19. ↑ 29511030
  20. ↑ https://en.wikipedia.org/wiki/FOSB
  21. ↑ 29406432
  22. ↑ 26500758
  23. ↑ 28843050
  24. ↑ 29511030
  25. ↑ 27913780
  26. ↑ 27913780
  27. ↑ 12808568
  28. ↑ 19366064
  29. ↑ 30191128
  30. ↑ From Dorland, 27th ed and Holland et al., Cancer Medicine, 3d ed, pp2105-7
  31. ↑ https://www.ncbi.nlm.nih.gov/mesh/68012514
  32. ↑ 30217704
  33. ↑ 27780597
  34. ↑ 30179666
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