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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 malformations

Simple vascular malformations

Capillary malformations (CM)

Nevus simplex
  • Also called "salmon patch" , “angel kiss”, “stork bite”, this common anomaly presents as single or multiple blanchable, pink-red patches with poorly defined borders in newborn infants. It may affect up to 60% of new born infants.[1]
  • Typically are found at the nape of the neck , on the forehead between the eyebrows or on the eyelids. Although asymptomatic, they often become more noticeable during crying or temperature changes.
  • Fades within one to two years, though some lesions can persist on the back of the neck.[2] No treatment is needed except when asked by the patient.
  • Imaging studies are recommended to evaluate for underlying spinal dysraphism if lumbosacral nevus simplex is present with another lumbosacral abnormality such as dermal sinus or pit, lipoma, patch of hypertrichosis, or deviated gluteal cleft.[1]
Cutaneous and/or mucosal CM (“port-wine” stain)
  • "A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema." They occur on face for majority of times and may vary from pale pink to deep red or purple, ranging from few millimeters to centimeters in diameter.[3] Lesions are usually flat, are not painful and do not regress spontaneously.
  • Can be classified as follows:
    • Nonsyndromic CM
    • CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)
    • CM with bone and/or soft tissues overgrowth
    • Diffuse CM with overgrowth (DCMO)
  • Usually occur as sporadic isolated lesions, following the embryonic vasculature of the face.[4] Majority of lesions are caused by somatic mutations in GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) and its paralogue GNA 11. Somatic activating mutation in GNAQ c.548G>A, p.Arg183Gln has been demonstrated in majority of lesions. A novel GNAQ, c.547C>G, p.Arg183Gly variant has also been found to be associated with some lesions.[4]
  • May be associated with other abnormalities including glaucoma, and soft tissue and bone overgrowth and with various syndromes including Sturge-Weber syndrome, Klippel-Trenaunay syndrome, Parkes-Weber syndrome, Servelle-Martorell syndrome, Proteus syndrome, CLOVES syndrome, Bannayan-Riley-Ruvalcaba syndrome, Capillary malformation-arteriovenous malformation syndrome, Macrocephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome, Beckwith-Wiedemann syndrome.
  • Diagnosis is mainly clinical depending upon history and examination. New born screening for other congenital and genetic anomalies may be indicated including urgent ophthalmology review and a brain MRI.[5]
  • The pulsed dye laser (PDL) treatment is considered to be the gold standard. Surgery is considered when PWS is associated with bone and soft tissues overgrowth.[6]
  • To learn more about PWS click here.
Reticulate CM
  • Cutaneous capillary malformations which are reticulated, widespread on body ranging from few to hundreds of oval/circular macules or patches varying in size from few mm to several cm. These anomalies are found in two syndromes:
    • CM of MIC-CAP (microcephaly-capillary malformation)
    • CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)
CM of CM-AVM
  • Usually multiple, these malformations can be round to oval, can vary from pink-red to tan,and are found in patches of 1 to 2 cm in size. These patches are scattered throughout the body and new ones may continue to appear throughout childhood. Sometimes a high flow murmur can be heard using Doppler device.[7]
  • These are found in Capillary malformation-arteriovenous malformation syndrome, an autosomal dominant syndrome associated with mutations in RASA1.[8]
Cutis marmorata telangiectatica congenita (CMTC)
  • A congenital, vascular malformation consisting of capillary and venous sized vessels. Presentation is similar to physiologic cutis marmorata with a fixed reticulate erythema but unlike physiologic cutis marmorata, the erythema does not resolve with warming and may be associated with skin ulceration, atrophy of the skin, and undergrowth of the involved extremity. [9] [10]
  • Findings may include prominent veins, telangiectasias, cutaneous atrophy, ulceration, and hyperkeratosis. May have localized or generalized appearance. In localized pattern, the lesions are confined to one side of the body, not crossing midline with or without sharp demarcation. [11]
  • May be associated with a number of other abnormalities, of which limb asymmetry is the most common. Others may include glaucoma, port wine stains, angiokeratomas, hemangiomas. It may also be associated with Sturge-Weber syndrome.[12] Most cases tend be sporadic but autosomal recessive pattern has been observed in familial cases.[13]
  • Diagnosis is clinical and depends on history and examination. Management depends on the systemic involvement. Skin lesions tend to improve spontaneously.[14][15]
Telangiectasia
  • "Permanent dilation of preexisting blood vessels creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders."[16] To learn about Hereditary hemorrhagic telangiectasia (HHT) click here.

Lymphatic malformations (LM)

Common (cystic) LM
  • benign lesions consisting of dilated lymphatic channels or cysts lined by cells of endothelial origin with lymphatic differentiation.[17] If these lesions are associated with overgrowth then some of these lesions belong to the PIK3CA-related overgrowth spectrum. [18]
  • These are classified as follows:
    • Macrocystic LM
    • Microcystic LM
    • Mixed cystic LM
    1. Macrocystic LM
      • Also called cystic hygroma, and cystic lymphangioma. A cystic growth consisting of large, interconnected lymphatic cysts lined by a thin endothelium. Usually found in neck, axilla and groin. Presents as a large, poorly delineated, translucent, soft cystic mass covered by normal skin.
      • May be associated with chromosomal abnormalities such as Down syndrome, Turner syndrome. To learn more click here.
    2. Microcystic LM
      • Also known as 'lymphangioma circumscriptum', these lymphatic anomalies may be present at birth or may develop in first few years of life. Usual presentation is as a cluster of clear, translucent or hemorrhagic vesicles that may cause pressure symptoms as they grow in size.
      • Usually affect deep seated structures and frequent locations are proximal extremities, trunk, axilla, and the oral cavity.
      • Diagnosis is clinical and treatment options include surgery, sclerotherapy, radiotherapy, and laser therapy. Recently topical sirolimus has also been used.[19] To learn more click here.
Generalized lymphatic anomaly (GLA)
  • Diffuse or multicentric proliferation of dilated lymphatic vessels that may involve skin, bones, and internal organs. The proliferating vessels resemble common lymphatic malformations but the disease involvement is multi-system.[20][21] Lungs, bones and mediastinum are most commonly affected but skin, liver and spleen are commonly affected as well. Liver, spleen, and thoracic duct involvement typically indicates worse prognosis.[22]
  • Considered to b sporadic and non-hereditary, it may present in childhood or can be diagnosed later in life.[23][24] Etiology is unknown but high levels of VEGFR-3 have been reported in patient population.
  • Chylothorax due to leakage of lymphtic fluid is commonly encountered and is difficult to treat.[25] Patient may present with respiratory symptoms such as chest pain, wheezing, SOB, cough, repeated infections or symptoms due to involvement of other organs such as bone pain, pathological fractures, pelvic or abdominal pain, swelling, fever, internal bleeding, skin lesions.[20][26][27][24]
  • Diagnosis of GLA is very challenging and requires multidisciplinary input. It depends on history, examination, imaging studies such as MRI, contrast ultrasound, magnetic resonance lymphangiogram, CXR,near-infrared fluorescence lymphatic imaging, nanotechnology-based MRI agents and biopsy.[20][28][29] Sometimes surgery is required that can be both diagnostic and therapeutic.[20]
  • Management is usually focused on symptomatic improvement. Options include chest drainage, open thorax surgery, sclerotherapy, surgical removal (debulking), lymphatic anastomosis and medical therapies such as sirolimus and interferon.[20]
    1. Kaposiform lymphangiomatosis (KLA)
      • A rare subtype with worse pronosis.[30] Malformed vessels occur with cluster and sheets of spindle lymphatic endothelial cells.[31] Consumptive coagulopathy is also a feature.[32]
      • Intra-thoracic component is often the cause of mortality.[31] Currently there are no treatment guidelines.[30]
LM in Gorham-Stout disease
  • Lymphatic malformation in Gorham-Stout disease affect a single or multiple bones and adjacent soft tissues, leading to progressive osteolysis and invasion of the bone cortex.[33][34][35] Was originally described as disappearing or vanishing bone disease. GSD progression often leads to visceral, abdominal and thoracic involvement that may cause effusion and ascites[35] The osteolysis is progressive in GSD as compared to non-progressive osteolysis in GLA.[35]
  • There are two distinct forms of GSD. Primary form involves multiple bones and tissues with multi-focal lesions as described above versus trauma induced GSD that typically involves one or closely adjacent one and is usually self limited.[36]
  • The etiology has not been established and gender, genetic inheritance, or race seem to play no role but inflammation, trauma and puberty have been thought to pay a role. Activation of platelet derived growth factor pathway and up regulation of lymphangiogenesis stimulating pathways may play a role in pathogenesis.[37][38][39] IL-6 has been found to be elevated in some patients.[40]
  • Symptoms depend on the bone involved and extent of involvement. Patient can experience chest pain, dyspnea, tachypnea, wheezing, SOB, dull ache, back pain, paralysis, loose teeth and facial deformation.[41][42] The involvement of thorax and development of chylothorax indicate poor prognosis.[42]
  • Diagnosis often requires clinical, radiological and histopathological evidence. Imaging studies including MRI and CT scan are often crucial. Management is often symptomatic and encompasses anti-osteoclastic medication and radiotherapy.[42][43] If disease affects neuro-vascular structures then surgery is indicated.[44][45]
“Acquired” progressive lymphatic anomaly
  • Also called acquired progressive lymphangioma, this vascular anomaly usually presents as asymptomatic, slow growing, reddish brown or violaceous papule, plaque, macule or erythema. Histological studies show numerous, dilated, thin-walled vessels that are lined by flat endothelial cells and are proliferating. No nuclear atypia has been demonstrated in this locally aggressive tumor. The cells appear to dissect between the collagen fibers.[46][47][48][49]
  • Excision is usually the treatment of choice but some other therapies such as Imiquimod 5% cream have been tried.[50][51]
Primary lymphedema
  • Edema due to obstruction or disorder of lymphatic vessels and lymph nodes. Can present at any stage of life but majority of he cases present at puberty.[52]
  • Treatment is usually conservative by compression therapy that may include complex physical therapy, pneumatic pumps and compressive garments. Some cases may require volume reducing surgery. Lymphatic microsurgery is being tried in some experimental studies.[52]
    1. Nonne-Milroy syndrome
      • A hereditary disorder that usually presents as bilateral edema of lower limbs that may involve the whole extremity or may be limited to legs, feet or toes. This may or may not be accompanied by toenail changes such as upslanting toenails and deep creases in the toes, papillomatosis, hydrocele, hydrothorax, lung hypoplasia and prominent leg veins. A case of unilateral phenotype have also been reported. Swellings may be complicated by recurrent episodes of cellulitis.[53][54][55][56]
      • The disease typically follows autosomal-dominant pattern though cases of autosomal-recessive inheritance and variable expression has also been reported. The defect thought to be responsible has been located on VEGFR3 (FLT4) gene that codes for vascular endothelial growth factor receptor 3 (VEGFR3).[55][56][54]
    2. Primary hereditary lymphedema
      • Chronic edema that can appear in any body part due to blockage or malfunctioning of lymphatic channels that may lead to recurrent infections and impairment.[57][58]
      • Results from mutations in VEGFC gene that encodes the ligand for the vascular endothelial growth factor receptor 3 (VEGFR3/FLT4). This gene plays an important role in lymphangiogenesis.[58][57]
    3. Primary hereditary lymphedema
      • Edema typically first appears in legs and then progresses to involve the arms.[59]
      • Thought to be associated with muatation in GJC2 gene that encodes for connexin-47, a member of the gap junction connecxin family. Mutation in this gene has also been linked to Pelizaeus-Merzbacher-like disease type 1 and spastic paraplegia type 44.[59][60]
    4. Lymphedema-distichiasis
      • A syndrome that is characterized by edema that typically manifests in lower limb and distichiasis that is an anomaly of eyelashes. Distichiasis appears earlier in life than lymphedema and manifests as extra eyelashes that typically arise from meibomian glands. This syndrome has been associated with congenital heart disease, varicose veins, cleft palate, ptosis, strabismus, renal abnormalities, spinal extradural cysts, and neck webbing.[61][62][63][64][65][66]
      • Inherited in autosomal dominant pattern mutation in FOXC2 gene that encodes for transcription factors. Inheritance also shows variable expression.[67][68][65]
      • Diagnosis is clinical. Treatment for lymphedema is mainly conservative with management of complications such as cellulitis. Treatment for distichiasis consists of symptomatic management such as lubrication or definitive management such as surgery, cryotherapy, or electrolysis.[61][69]
    5. Hypotrichosis-lymphedema-telangiectasia
      • Characterized by less than normal body hair (hypotrichosis), chronic swelling of the body (lymphedema), and dilated blood vessels (telangiectasia). These usually appear at birth or early in life and then progressively worsen over time. Hypotrichosis may present as absent eyebrows, eyelashes and alopecia or may manifest as sparse body hair. Lymphedema typically has predilection for lower limbs and telangiectasia are more commonly seen on palms although plantar telangiectasia are also seen. This syndrome has also been associated with cutis marmorata, hydrocele, palpebral edema, ascites, dermal atrophy, small cutaneous papular vascular lesions, skin degeneration, hydrops fetalis, pleural effusion, renal defects, aortic dilation and abnormal nails.[70][71][72][73]
      • Mutation in SOX18 gene that encodes for transcription factor SOX18 is thought to be the cause of this syndrome. This transcription factor is expressed widely in body tissues and that may explain the wide ranging manifestations of this syndrome. Inheritance can both be autosomal-dominant and autosomal-recessive.[74][75][76][77][78][79][80]
      • There is no definitive treatment for this syndrome. Management is based on genetic counseling and symptomatic treatment.[81][82]
    6. Primary lymphedema with myelodysplasia
      • Also called Emberger syndrome, this anomaly presents with wide variety of phenotypes including congenital sensorineural deafness, lymphedema, myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing, and generalized warts.. Lymphedema has predisposition for lower limbs. Patient may present with complication of these phenotypes such as infections, bleeding and recurrent cellulitis.[83][84][85][86]
      • Deficiency of transcription factor GATA2 due to mutations in GATA2 gene is thought to play the critical role. Inheritance tends to follow autosomal-dominant pattern.[83][84][85][87][88][86]
      • Screening for GATA2 muations is indicated in patients who present with lymphedema and hematological abnormalities. Children should be screened for hematological disorders if they present with lower limb lymphedema. Besides symptomatic treatment for lymphedema and standard treatment for deafness, primary stem cell transplant is indicated for hematological malignancies. [85][83][89][90]
    7. Primary generalized lymphatic anomaly
      • Also called Hennekam lymphangiectasia-lymphedema syndrome, this disorder is characterized by generalized lymphatic anomalies such as lymphangiectasia and lymphedema, typical dysmorphic features such as flat nasal bridge, hypertelorism, small mouth and variable intellectual disability that may present as developmental delay. Lymphangiectasias are typically found in intestines and can cause generalized body swelling due to loss of proteins but can also be found in other organs such as kidney, thyroid gland and pleura.[91][92][93]
      • Mutations in CCBE1 gene are thought to be the main culprit although mutations in FAT4 gene has also be linked by some studies. CCBE1 encodes for Collagen- and calcium-binding EGF domain-containing protein 1 (CCBE1) that plays a crucial role in activation of vascular endothelial growth factor-C (VEGFC) through its collagen domain. Inheritance tends to follow autosomal-recessive pattern.[94][91][93][95]
      • Diagnosis depends on history and examination, lab findings, and genetic testing for associated mutations. Analysis for CCBE1 mutation should be considered in patients presenting with unexplained lymphatic anomalies, and/or unexplained intellectual disability. No definitive management is available at this point. Conservative measures for lymphedema and protein deficiency, and rehabilitation for intellectual disability is the mainstay of management.[96][91][93][96]
    8. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
      • As name indicates, this syndrome is characterized by microcephaly that is often accompanied by intellectual disability, congenital lymphedema and ocular findings. Ocular defects, often because of chorioretinal dysplasia, may include peripheral retinal pigmentation, retinal folds, chorioretinopathy, widespread chorioretinal atrophy, hyperopia, small corneas, nystagmus and small optic nerves. Microcephaly can be variable and imaging often shows small size brain. Intellectual disability can also vary from normal developmental to severe mental retardation. Lymphedema most often involves lower limbs and may or may not resolve spontaneously. Facial features are distinct with broad nose, anteverted nares, upslanting palpebral fissures, a rounded nasal tip, a long philtrum, a pointed chin, a thin upper lip, prominent ears, and patient may also have atrial septal defects.[97][98][99][100][101]
      • Mutations in KIF11 gene that encodes for spindle motor protein of kinesin family, a protein that plays a role in mitosis, are thought to cause this syndrome. These mutations can be sporadic or hereditary, and when hereditary they follow autosomal-dominant pattern with variable expression and reduced penetrance.[97][102][103][104][105]
      • Diagnosis requires genetic testing in addition to clinical findings. Long term cardiac and ophthalmologic follow-ups are recommended.[100][105]
    9. Lymphedema-choanal atresia
      • A very rare syndrome described in 1982 in a Middle Eastern family when individuals in the family presented with bilateral posterior choanal atresia with other developmental abnormalities such as high arched palate, hypoplastic nipples, pericardial effusion, and pectus excavatum. Follow up detected lymphedema in five individuals with choanal atresia in the family later in 1991.[106]
      • Deletion in PTPN14 gene that appeared to follow autosomal-recessive pattern are thought to be the cause. This gene encodes for a protein that is thought to be involved in cell-signaling pathways and regulation of cellular functions.[106]

Venous malformations (VM)

Common VM
  • Localized defects characterized by dilated venous channels. Microscopically they consist of thin endothelial cells lined by fewer, disorganized smooth muscle cells and extracellular matrix. Patient may present with deforming lesions, bleeding, thrombosis, significant acute or chronic pain, and pressure symptoms. Located on skin and mucosa for majority of the times, lesions often are present at birth.[107][108][109]
  • Sporadic mutations in the TEK gene, that encodes the tyrosine kinase receptor TIE2 that functions to regulate cellular growth and proliferation are found in half of the patients with sporadic venous malformations.[107][108][109]
  • Diagnosis is clinical. Current treatment options include sclerotherapy and surgery, alone or in combination but inaccessible lesions and high recurrence rate remains a problem. mTOR inhibitor rapamycin has been used in some studies with success.[108]
Familial VM cutaneo-mucosal (VMCM)
  • Venous malformations that appear both on skin and mucous membranes. Present at birth, they may not be apparent early in life and can appear after trauma and during pregnancy and puberty because of rapid growth. Patient may present with sequela of these malformations such as cosmetic deformation, pain, bleeding.[110]
  • Associated with mutation in TEK/TIE2 receptor tyrosine kinase that plays critical role in development of vessels and cardiovascular system.[110][111]
Blue rubber bleb nevus (Bean) syndrome VM
  • Also called Bean's syndrome and diffuse angiomatosis, venous malformations in this disorder involve the skin, oral cavity and internal organs, most typically the gastrointestinal tract. Cutaneous malformations are bluish in color, generally smaller than 1-2 cm, often hyperkeratotic, compressible and often found at palms and soles. Anomalies on the skin are usually asymptomatic but GI malformations can cause hemorrhage that can lead to anemia, most frequent presentation in patient population. Other manifestation can include GI infarction, telescoping or twisting of GI tract leading to intussusception and volvulus.[112][113][114]
  • Thought to be caused by somatic double (cis) muatations in TEK gene although autosomal-dominant inheritance has also been described in some cases. The gene that encodes TIE2, receptor tyrosine kinase involved in cell-signaling.[115][114][116][113]
  • The documentation of gastrointestinal lesions by endoscopy, colonoscopy, CT scan or MRI is considered pathognomonic. Sclerotherapy and surgery such as enterotomy remain the mainstay of treatment along with symptomatic management such as long term iron supplementation and/or blood transfusions.[113][112][117]
Glomuvenous malformation (GVM)
  • Defined by presence of glomus cells in in smooth muscle layer of the vessels, these mesynchymal vascular anomaly arises from glomus bodies, arteriovenous anastomosis that help regulate temperature via shunting of blood through its unique neuromyoarterial structure. Classically found in digits, they can occur anywhere but widespread lesions are not common. Clinical presentation varies from asymptomatic bluish to reddish plaques and nodules that are often partially compressible and are tender to painful disfiguring lesions.[118][119][120][121]
  • Mutations in glomulin (GLMN) gene that leads to defective GLMN protein is thought to be the cause. GMLN protein binds Rbx1 and inhibits its E3 ubiquitin ligase activity. If GMLN is defective then it leads to increased activity of Rbx1 causing decreased levels of Fbw7 and thus increased levels of Cyclin E and c-Myc because Fbw7 facilitates the ubiquitination and degradation Cyclin E and c-Myc.Mutations are inherited in autosomal-dominant pattern with incomplete pattern and variable expression although sporadic cases have been reported.[122][123][124][125]
  • Imaging such as MRI and CT scan and ultrasound can localize and define the extent of disease but definitive diagnosis requires biopsy following by histopathological studies demonstrating proliferation of glomus cells and venous malformations. Current treatment modalities include surgical excision and sclerotherapy although recurrence is common. Recently electron beam radiation and Nd:YAG laser have been used with success.[118][119][120][126][127][128][129]
Cerebral cavernous malformation (CCM)
  • Characterized by clusters of malformed endothelial channels forming densely arranged sinusoids that possess little to no intervening brain tissues. Because they lack smooth muscles and connective tissue and are malformed, they are prone to leakage causing micro-hemorrhages and thrombosis leading to hemosiderin deposits and gliosis around them. They can remain asymptomatic throughout life making them incidental finding but can cause symptoms associated with hemorrhage and pressure effects such as headaches, seizures, stroke, and focal neurologic deficits.[130][131][132]
  • Mutations in CCM1 Krev interaction trapped protein 1 (KRIT1), CCM2 Malcavernin, and CCM3 Programmed cell death protein 10 (PDCD10) are thought to be the cause of familial cases that tend to be inherited in autosomal-dominant pattern with incomplete penetrance, and variable expression. These proteins interact with cytoskeleton and endothelial tight junctions during vascular development in neural tissues to help maintain endothelial barrier function. they can occur due to sporadic mutations, usually presenting as single cavernous malformation while familial cases typically present as multiple cavernous malformations.[130][131][133][134]
  • Magnetic resonance (MR) imaging techniques are diagnostic modality of choice. Current treatment options depend on clinical history and location of the malformations. Surgery is usually preferred for symptomatic lesions in easily accessible locations and by some, for refractory epilepsy. If asymptomatic, observation is recommended but in case of single accessible asymptomatic malformation, surgical resection can be done. Surgery is also not recommended for malformations located in brain-stem due to significant mortality and morbidity associated with surgery while some recommend surgery after a second symptomatic bleed. Guidelines for symptomatic lesions located deep vary. Radiosurgery can be an alternative modality for single, symptomatic lesion if risks associated with surgery are unacceptable.[131][135][136][137][138]
Familial intraosseous vascular malformation (VMOS)
  • Described as enlargement and expansion of malformed blood vessels that is severe and progressive, typically in skull, face, and vertebral column. Another typical finding is mid-line abnormalities such as diastasis recti, supraumbilical raphe, and hiatus hernia. Clinical presentation can vary but increasing intracranial pressure and hemorrhage after any surgical procedure such as extraction of tooth are of major concern. Other common findings include pain, enlarging tissues such as expanding jaw, bluish mass/swelling, loose tooth, spontaneous bleeding, and ulceration.[139][140][141]
  • Mutations in ELMO2 gene encoding engulfment and cell motility protein 2 (ELMO2) are thought to be the cause of these malformations. This protein s involved cell-signaling cascade through its attachment to cell membrane. Majority of the cases are sporadic but recently some familial cases with autosomal-recessive inheritance have been described.[139][142]
  • CT angiography and magnetic resonance techniques are the preferred diagnostic modalities and may show widening of neurovascular canal on CTA, hyperintense signal on MRI. Honeycomb and sunburst radiographic appearances have been described as well. Management options include embolization, sclerotherapy, and surgical extirpation.[139][141][143]
Verrucous venous malformation
  • Formerly verrucous hemangioma, this rare congenital malformation is characterized by dilated blood vessels reaching out from papillary layer of dermis into subcutaneous tissue. Earlier presentation is bluish lesion that develops warty surface later on. Painful enlarging mass is the typical complain in symptomatic patients.[144][145]
  • Somatic mutation in MAP3K3 mitogen-activated protein kinase kinase kinase 3 are thought to be the cause.[146]
  • MRI is the diagnostic modality of choice but histopathological confirmation is gold standard for accurate diagnosis because of its close resemblance with angiokeratoma. Superficial ablation, surgical excision are treatment choices. Recently sirolimus has been used in some studies.[144][145][147]

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.[148][149]
  • 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 AV shunting, pressure symptoms, skin necrosis and may also erode bone.[149][150]
  • Etiology and pathophysiology are not clearly defined but majority of the lesions are congenital while a one fifth may be associated with trauma.[148]
  • 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 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.[148][149][150][151][152][153]

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.[154][155]
  • It may be classified into following entities:[156]
    • 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).[154][155][156][157]
  • 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.[154][157][156][158]

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.[159][160][161]
  • Abnormalities of vasculogenesis and angiogenesis have been proposed as pathogenesis but it is not well-established.[160]
  • 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.[160][161][162]

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.[163][164]
  • Etiology can be classified as following: Congenital, traumatic, infection and inflammation and familial.[163][165]
  • 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.[164][166][167][168][169]

Multifocal lymphangioendotheliomatosis with thrombocytopenia / cutaneovisceral angiomatosis with thrombocytopenia (MLT/CAT)

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  82. ↑ Valenzuela I, Fernández-Alvarez P, Plaja A, Ariceta G, Sabaté-Rotés A, García-Arumí E, Vendrell T, Tizzano E (May 2018). "Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)". Eur J Med Genet. 61 (5): 269–272. doi:10.1016/j.ejmg.2018.01.001. PMID 29307792.
  83. ↑ 83.0 83.1 83.2 Seo SK, Kim KY, Han SA, Yoon JS, Shin SY, Sohn SK, Moon JH (January 2016). "First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation". Korean J. Intern. Med. 31 (1): 188–90. doi:10.3904/kjim.2016.31.1.188. PMC 4712426. PMID 26767875.
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  139. ↑ 139.0 139.1 139.2 Cetinkaya A, Xiong JR, Vargel İ, Kösemehmetoğlu K, Canter Hİ, Gerdan ÖF, Longo N, Alzahrani A, Camps MP, Taskiran EZ, Laupheimer S, Botto LD, Paramalingam E, Gormez Z, Uz E, Yuksel B, Ruacan Ş, Sağıroğlu MŞ, Takahashi T, Reversade B, Akarsu NA (August 2016). "Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling". Am. J. Hum. Genet. 99 (2): 299–317. doi:10.1016/j.ajhg.2016.06.008. PMC 4974086. PMID 27476657.
  140. ↑ Vargel I, Cil BE, Er N, Ruacan S, Akarsu AN, Erk Y (April 2002). "Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder". Am. J. Med. Genet. 109 (1): 22–35. PMID 11932989.
  141. ↑ 141.0 141.1 Handa H, Naidu GS, Dara BG, Deshpande A, Raghavendra R (March 2014). "Diverse imaging characteristics of a mandibular intraosseous vascular lesion". Imaging Sci Dent. 44 (1): 67–73. doi:10.5624/isd.2014.44.1.67. PMC 3972408. PMID 24701461.
  142. ↑ Peotter JL, Phillips J, Tong T, Dimeo K, Gonzalez JM, Peters DM (October 2016). "Involvement of Tiam1, RhoG and ELMO2/ILK in Rac1-mediated phagocytosis in human trabecular meshwork cells". Exp. Cell Res. 347 (2): 301–11. doi:10.1016/j.yexcr.2016.08.009. PMC 5333770. PMID 27539661.
  143. ↑ Cariati P, Marín-Fernández AB, Julia-Martínez MÁ, Pérez-de Perceval-Tara M, Sánchez-López D, Martínez-Lara I (February 2018). "Endovascular treatment of an intraosseous arteriovenous malformation of the mandible in a child. A case Report". J Clin Exp Dent. 10 (2): e189–e191. doi:10.4317/jced.54550. PMC 5899801. PMID 29670739.
  144. ↑ 144.0 144.1 Singh J, Sharma P, Tandon S, Sinha S (2017). "Multiple Verrucous Hemangiomas: A Case Report with New Therapeutic Insight". Indian Dermatol Online J. 8 (4): 254–256. doi:10.4103/idoj.IDOJ_313_16. PMC 5518576. PMID 28761841.
  145. ↑ 145.0 145.1 Oppermann K, Boff AL, Bonamigo RR (2018). "Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme". An Bras Dermatol. 93 (5): 712–715. doi:10.1590/abd1806-4841.20187259. PMC 6106676. PMID 30156622.
  146. ↑ Couto JA, Vivero MP, Kozakewich HP, Taghinia AH, Mulliken JB, Warman ML, Greene AK (March 2015). "A somatic MAP3K3 mutation is associated with verrucous venous malformation". Am. J. Hum. Genet. 96 (3): 480–6. doi:10.1016/j.ajhg.2015.01.007. PMC 4375628. PMID 25728774.
  147. ↑ Zhang G, Chen H, Zhen Z, Chen J, Zhang S, Qin Q, Liu X (July 2018). "Sirolimus for treatment of verrucous venous malformation: A retrospective cohort study". J. Am. Acad. Dermatol. doi:10.1016/j.jaad.2018.07.014. PMID 30048660.
  148. ↑ 148.0 148.1 148.2 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.
  149. ↑ 149.0 149.1 149.2 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.
  150. ↑ 150.0 150.1 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.
  151. ↑ Tang P, Hornicek FJ, Gebhardt MC, Cates J, Mankin HJ (June 2002). "Surgical treatment of hemangiomas of soft tissue". Clin. Orthop. Relat. Res. (399): 205–10. PMID 12011711.
  152. ↑ Kim DH, Hwang M, Kang YK, Kim IJ, Park YK (June 2007). "Intramuscular hemangioma mimicking myofascial pain syndrome: a case report". J. Korean Med. Sci. 22 (3): 580–2. doi:10.3346/jkms.2007.22.3.580. PMC 2693661. PMID 17596677.
  153. ↑ Babu D, Bhamre R, Katna R, Pai P (September 2014). "Intramuscular haemangioma of the tongue". Ann R Coll Surg Engl. 96 (6): e15–7. doi:10.1308/003588414X13946184903126. PMC 4474220. PMID 25198963.
  154. ↑ 154.0 154.1 154.2 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.
  155. ↑ 155.0 155.1 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.
  156. ↑ 156.0 156.1 156.2 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.
  157. ↑ 157.0 157.1 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.
  158. ↑ Jha AK, Sonthalia S, Jakhar D (2018). "Dermoscopy of Angiokeratoma". Indian Dermatol Online J. 9 (2): 141–142. doi:10.4103/idoj.IDOJ_278_17. PMC 5885630. PMID 29644211.
  159. ↑ Song BH, Youn SH, Park EJ, Kwon IH, Kim KH, Kim KJ (October 2011). "A case of sinusoidal hemangioma with lipoma". Ann Dermatol. 23 (Suppl 2): S250–3. doi:10.5021/ad.2011.23.S2.S250. PMC 3229078. PMID 22148063.
  160. ↑ 160.0 160.1 160.2 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.
  161. ↑ 161.0 161.1 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.
  162. ↑ Salemis NS (February 2017). "Sinusoidal hemangioma of the breast: diagnostic evaluation management and literature review". Gland Surg. 6 (1): 105–109. doi:10.21037/gs.2016.11.06. PMC 5293651. PMID 28210560.
  163. ↑ 163.0 163.1 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.
  164. ↑ 164.0 164.1 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.
  165. ↑ Khodadad G (January 1973). "Arteriovenous malformations of the scalp". Ann. Surg. 177 (1): 79–85. PMC 1355509. PMID 4682507.
  166. ↑ Chowdhury FH, Haque MR, Kawsar KA, Sarker MH, Momtazul Haque AF (January 2013). "Surgical management of scalp arterio-venous malformation and scalp venous malformation: An experience of eleven cases". Indian J Plast Surg. 46 (1): 98–107. doi:10.4103/0970-0358.113723. PMC 3745130. PMID 23960313.
  167. ↑ El Shazly AA, Saoud KM (October 2012). "Results of surgical excision of cirsoid aneurysm of the scalp without preoperative interventions". Asian J Neurosurg. 7 (4): 191–6. doi:10.4103/1793-5482.106651. PMC 3613641. PMID 23559986.
  168. ↑ Kasdon DL, Altemus LR, Stein BM (June 1976). "Embolization of a traumatic arteriovenous fistula of the scalp with radiopaque Gelfoam pledgets. Case report and technical note". J. Neurosurg. 44 (6): 753–6. doi:10.3171/jns.1976.44.6.0753. PMID 1271098.
  169. ↑ Hendrix LE, Meyer GA, Erickson SJ (December 1996). "Cirsoid aneurysm treatment by percutaneous injection of sodium tetradecyl sulfate". Surg Neurol. 46 (6): 557–60, discussion 560–1. PMID 8956889.
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