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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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All fast-flow malformations are malformations involving arteries. They constitute about 14% of all vascular malformations.
- Arterial malformation
- Arteriovenous fistula (AVF) : a lesion with a direct communication via fistulae between an artery and a vein.
- Arteriovenous malformation : a lesion with a direct connection between an artery and a vein, without an intervening capillary bed, but with an interposed nidus of dysplastic vascular channels in between.
Vascular malformation is a collective term for different disorders of the vasculature (errors in vascular development). It can be a disorder of the capillaries, arteries, veins and lymphatic vessels or a disorder of a combination of these (lesions are named based on the primary vessel that is malformed). A vascular malformation consists of a cluster of deformed vessels, due to an error in vascular development (dysmorphogenesis). However, endothelial turnover is stable in these defects. Congenital vascular malformations are always already present at birth, although they are not always visible. In contrast to vascular tumors, vascular malformations do not have a growth phase, nor an involution phase. Vascular malformations tend to grow proportionately with the child. Vascular malformations never regress, but persist throughout life.
Vascular malformations can be divided into slow-flow, fast-flow and complex-combined types.
There are three distinct types of lymphangioma, each with their own symptoms. They are distinguished by the depth and the size of abnormal lymph vessels, but all involve a malformation of the lymphic system. Lymphangioma circumscriptum can be found on the skin's surface, and the other two types of lymphangiomas occur deeper under the skin.
- Lymphangioma circumscriptum, a microcystic lymphatic malformation, resembles clusters of small blisters ranging in color from pink to dark red. They are benign and do not require medical treatment, although some patients may choose to have them surgically removed for cosmetic reasons.
- Cavernous lymphangiomas are generally present at birth, but may appear later in the child's life. These bulging masses occur deep under the skin, typically on the neck, tongue and lips, and vary widely in size, ranging from as small as a centimeter in diameter to several centimeters wide. In some cases, they may affect an entire extremity such as a hand or foot. Although they are usually painless, the patient may feel mild pain when pressure is exerted on the area. They come in the colors white, pink, red, blue, purple, and black; and the pain lessens the lighter the color of the bump.
- Cystic hygroma shares many commonalities with cavernous lymphangiomas, and some doctors consider them to be too similar to merit separate categories. However, cystic lymphangiomas usually have a softer consistency than cavernous lymphangiomas, and this term is typically the one that is applied to lymphangiomas that develop in fetuses. They usually appear on the neck (75%), arm pit or groin areas. They often look like swollen bulges underneath the skin.
Cavernous hemangiomas are the most common benign tumors of the liver. Usually one tumor exists, but multiple lesions can occur in the left or right lobe of the liver in 40% of patients. Their sizes can range from a few millimeters to 20 centimetres. Those over 5 cm are often referred to as "giant hemangiomas".
Lymphangiomas have traditionally been classified into three subtypes: "capillary" and "cavernous lymphangiomas" and cystic hygroma. This classification is based on their microscopic characteristics. A fourth subtype, the "hemangiolymphangioma" is also recognized.
- Capillary lymphangiomas
- Cavernous lymphangiomas
- Cystic hygromas
- Hemangiolymphangioma
Lymphangiomas may also be classified into "microcystic", "macrocystic", and "mixed" subtypes, according to the size of their cysts.
- Microcystic lymphangiomas
- Macrocystic lymphangiomas
- Mixed lymphangiomas
Finally, lymphangiomas may be described in stages, which vary by location and extent of disease. In particular, stage depends on whether lymphangiomas are present above or "superior" to the hyoid bone ("suprahyoid"), below or "inferior" to the hyoid bone ("infrahyoid"), and whether the lymphangiomas are on one side of the body ("unilateral") or both ("bilateral").
- Stage I: Unilateral infrahyoid.
- Stage II: Unilateral suprahyoid.
- Stage III: Unilateral suprahyoid and infrahyoid.
- Stage IV: Bilateral suprahyoid.
- Stage V: Bilateral suprahyoid and infrahyoid.
In the eye, it is known as orbital cavernous hemangioma and is found in women more frequently than men, most commonly between the ages of 20-40. This neoplasm is usually located within the muscle cone, which is lateral to the optic nerve. It is not usually treated unless the patient is symptomatic. Visual impairment happens when the optic nerve is compressed or the extraocular muscles are surrounded.
Cystic hygromas are increasingly diagnosed by prenatal ultrasonography. A common symptom is a neck growth. It may be found at birth, or discovered later in an infant after an upper respiratory tract infection. Cystic hygromas can grow very large and may affect breathing and swallowing. Some symptoms may include a mass or lump in the mouth, neck, cheek, or tongue. It feels like a large fluid-filled sac. In addition, cystic hygromas can be found in other body parts such as the arm, chest, legs, groin, and buttocks. Cystic hygromas are also often seen in Turner's syndrome, although a patient who does not have Turner's syndrome can present with this condition.
Venous malformation is a subtype of vascular malformation affecting the venous vasculature. They are usually congenital and found at birth and are treated by Schlerotherapy or Laser Therapy.
Sinus pericranii typically present as soft palpable masses along midline skull, which may fluctuate in size depending on body positioning. Classically, these lesions are not associated with color change of the overlying skin, such as with other vascular lesions such as hemangioma.
A cystic hygroma, also known as cystic lymphangioma and macrocystic lymphatic malformation, is an often congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits. This is the most common form of lymphangioma. It contains large cyst-like cavities containing lymph, a watery fluid that circulates throughout the lymphatic system. Microscopically, cystic hygroma consists of multiple locules filled with lymph. In the depth, the locules are quite big but they decrease in size towards the surface.
Cystic hygromas are benign, but can be disfiguring. It is a condition which usually affects children; very rarely it can present in adulthood.
Cystic hygroma is also known as lymphatic malformation. Currently, the medical field prefers to use the term lymphatic malformation because the term cystic hygroma means water tumor. Lymphatic malformation is more commonly used now because it is a sponge-like collection of abnormal growth that contains clear lymphatic fluid. The fluid collects within the cysts or channels, usually in the soft tissue. Cystic hygromas occur when the lymphatic vessels that make up the lymphatic system are not formed properly. There are two types of lymphatic malformations. They are macrocystic lymphatic malformations, large cysts, and microcystic, small cysts. A person may have only one kind of the malformation or can have a mixture of both macro and micro cysts.
Cystic hygroma can be associated with a nuchal lymphangioma or a fetal hydrops. Additionally, it can be associated with Turner syndrome or with Noonan syndrome.
A lethal version of this condition is known as Cowchock Wapner Kurtz syndrome that, in addition to cystic hygroma, includes cleft palate and lymphedema, a condition of localized edema and tissue swelling caused by a compromised lymphatic system.
Considered part of the PTEN hamartoma tumor syndrome (PHTS), which also includes Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome, Cowden syndrome is a serious genetic disorder characterized by multiple hamartomas. Usually skin hamartomas exist, and commonly (in about 66% of cases) hamartoma of the thyroid gland exists. Additional growths can form in many parts of the body, especially in bones, CNS, the eyes, the genitourinary tract, the GI tract, and mucosa. The hamartomas themselves may cause symptoms or even death, but morbidity is more often associated with increased occurrence of malignancies, usually in the breast or thyroid.
Symptoms of AVM vary according to the location of the malformation. Roughly 88% of people with an AVM are asymptomatic; often the malformation is discovered as part of an autopsy or during treatment of an unrelated disorder (called in medicine an "incidental finding"); in rare cases, its expansion or a micro-bleed from an AVM in the brain can cause epilepsy, neurological deficit, or pain.
The most general symptoms of a cerebral AVM include headaches and epileptic seizures, with more specific symptoms occurring that normally depend on the location of the malformation and the individual. Such possible symptoms include:
- Difficulties with movement coordination, including muscle weakness and even paralysis;
- Vertigo (dizziness);
- Difficulties of speech (dysarthria) and communication, such as aphasia;
- Difficulties with everyday activities, such as apraxia;
- Abnormal sensations (numbness, tingling, or spontaneous pain);
- Memory and thought-related problems, such as confusion, dementia or hallucinations.
Cerebral AVMs may present themselves in a number of different ways:
- Bleeding (45% of cases)
- Acute onset of severe headache. May be described as the worst headache of the patient's life. Depending on the location of bleeding, may be associated with new fixed neurologic deficit. In unruptured brain AVMs, the risk of spontaneous bleeding may be as low as 1% per year. After a first rupture, the annual bleeding risk may increase to more than 5%.
- Seizure or brain seizure (46%) Depending on the place of the AVM, it can cause loss of vision in one place.
- Headache (34%)
- Progressive neurologic deficit (21%)
- May be caused by mass effect or venous dilatations. Presence and nature of the deficit depend on location of lesion and the draining veins.
- Pediatric patients
- Heart failure
- Macrocephaly
- Prominent scalp veins
One general danger of hamartomas is that they may impinge into blood vessels, resulting in a risk of serious bleeding. Because a hamartoma typically lacks elastic tissue, it may lead to the formation of aneurysms and thus possible hemorrhage. Where a hamartoma impinges into a major blood vessel, such as the renal artery, hemorrhage must be considered life-threatening.
Angiomyolipoma of the kidney was previously considered to be a hamartoma or choristoma.
Hamartomas of the spleen are uncommon but can be dangerous. About 50% of such cases manifest abdominal pain, and they are often associated with hematologic abnormalities and spontaneous rupture.
Angiomatosis is a non-neoplastic condition characterised by nests of proliferating capillaries arranged in a lobular pattern, displacing adjacent muscle and fat. It consists of many angiomas.
These tend to be cavernous hemangiomas, which are sharply defined, sponge-like tumors composed of large, dilated, cavernous vascular spaces.
Nasopharyngeal angiofibroma (also called juvenile nasopharyngeal angiofibroma) is a histologically benign but locally aggressive vascular tumor that grows in the back of the nasal cavity. It most commonly affects adolescent males. Patients with nasopharyngeal angiofibroma usually present with one-sided nasal obstruction and recurrent bleeding.
Typically not diagnosed until late childhood or later, Bonnet–Dechaume–Blanc syndrome usually presents itself with a combination of central nervous system features (midbrain), ophthalmic features (retina), and facial features. The degree of expression of the syndrome's components varies both clinically and structurally. Common symptoms that lead to diagnosis are headaches, retro-orbital pain and hemianopia.
The ophthalmic features of the Bonnet–Dechaume–Blanc syndrome occur as retinal arteriovenous malformation (AVMs). There are three categories of AVMs that are categorized depending on the severity of the malformation. The first category consists of the patient having small lesions that usually are asymptomatic. The second category, more severe than the first, is when the patient’s malformation is missing a connecting capillary. The missing capillary is meant to serve as a link between an artery and a vein; without it, edemas, hemorrhages, and visual impairments can result. Category three, the most severe, occurs when the patient’s malformations are so severe that the dilated vessels cause no distinction between artery and vein. When the symptoms are this severe, the patient has a significantly increased risk of developing vision loss. Since the retinal lesions categorized vary from large vascular malformations that affect a majority of the retina to malformations that are barely visible, the lesions cause a wide range of symptoms including decrease in visual sharpness, proptosis, pupillary defects, optic degeneration and visual field defects. The most common type of visual field impairment due to AVMs is homonymous hemianopia. Homonymous hemianopia typically presents unilaterally, but bilateral cases have been reported as well.
The extent of the central nervous system (CNS) features/symptoms of Bonnet–Dechaume–Blanc syndrome is highly dependent of the location of the cerebral AVMs and the extent of the malformation. The most common symptom affecting the CNS is an intracranial hemangioma in the midbrain. Along with hemangiomas, the malformations result in severe headaches, cerebral hemorrhages, vomiting, meningism, seizures, acute strokes or progressive neurological deficits due to acute or chronic ischaemia caused by arteriovenous shunting.
The distinguishable facial features that result from Bonnet–Dechaume–Blanc syndrome vary from case to case. A person showing signs of the syndrome may display faint skin discoloration, nevi and angiomas of the skin. Some patients with this disorder also present with high flow arteriovenous malformations of the maxillofacial or mandibular (jaw) regions. Another facial indicator of this disease is malformations affecting the frontal and/or maxillary sinuses.
In the lungs, pulmonary arteriovenous malformations have no symptoms in up to 29% of all cases.
They often appear in:
- Von Hippel-Lindau disease: It can be associated with Von Hippel-Lindau Disease and is a rare genetic multi system disorder characterized by the abnormal growth of tumours in the body. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure.
- Bacillary angiomatosis
- Klippel-Trenaunay-Weber syndrome
- Sturge-Weber syndrome
If nasopharyngeal angiofibroma is suspected based on physical examination (a smooth vascular submucosal mass in the posterior nasal cavity of an adolescent male), imaging studies such as CT or MRI should be performed. Biopsy should be avoided as to avoid extensive bleeding since the tumor is composed of blood vessels without a muscular coat.
Antral sign or Holman-Miller sign (forward bowing of posterior wall of maxilla) is pathognomic of angiofibroma.
DSA (digital subtraction angiography) of carotid artery to see the extension of tumors and feeding vessels
Vascular malformation is a blood vessel abnormality. There are many types, but the most common is arteriovenous malformation.
It may cause aesthetic problems as it has a growth cycle and can continue to grow throughout life. This is also known as Vascular giantism or lymphangiomas.
Sinus pericranii (SP) is a rare disorder characterized by a congenital (or occasionally, acquired) epicranial venous malformation of the scalp. Sinus pericranii is an abnormal communication between the intracranial and extracranial venous drainage pathways. Treatment of this condition has mainly been recommended for aesthetic reasons and prevention of hemorrhage.
Hemangioblastomas (or haemangioblastomas, see spelling differences) (capilliary hemangioblastomas) are tumors of the central nervous system that originate from the vascular system usually during middle-age. Sometimes these tumors occur in other sites such as the spinal cord and retina. They may be associated with other diseases such as polycythemia (increased blood cell count), pancreatic cysts and Von Hippel-Lindau syndrome (VHL syndrome). Hemangioblastomas are most commonly composed of stromal cells in small blood vessels and usually occur in the cerebellum, brain stem or spinal cord. They are classed as grade one tumors under the World Health Organization's classification system.
Bonnet–Dechaume–Blanc syndrome, also known as Wyburn-Mason syndrome, is a rare congential arteriovenous malformation of the brain, retina or facial nevi. The syndrome has a number of possible symptoms and can affect the skin, bones, kidneys, muscles, and gastrointestinal tract. When the syndrome affects the brain, people can experience severe headaches, seizures, acute stroke, meningism and progressive neurological deficits due to acute or chronic ischaemia caused by arteriovenous shunting.
As for the retina, the syndrome causes retinocephalic vascular malformations that tend to be present with intracranial hemorrhage and lead to decreased visual acuity, proptosis, pupillary defects, optic atrophy, congestion of bulbar conjunctiva, and visual field defects. Retinal lesions can be unilateral and tortuous, and symptoms begin to appear in the second and third decades of life.
The syndrome can present cutaneous lesions, or skin with different texture, thickness, and color, usually on the face. The facial features caused by the syndrome vary from slight discoloration to extensive nevi and angiomas of the skin. In some cases, the frontal and maxillary sinus can present problems in the subject due to the syndrome.
There have only been 52 reported cases of patients with Bonnet–Dechaume–Blanc syndrome as of 2012. Symptoms are rarely noticed in children and the syndrome is often diagnosed in late childhood or early adulthood when visual impairment is noticed. Fluorescein angiography is commonly used to diagnose the syndrome.
There have been several methods in treating patients who display Bonnet–Dechaume–Blanc syndrome. However, which method seems to work the most is within argument. Patients with intracranial lesions have been treated with surgical intervention and in some cases, this procedure has been successful. Other treatments include embolization, radiation therapy, and continued observation.
With limited research on Bonnet–Dechaume–Blanc syndrome, researchers have focused on the clinical and radiological findings rather than how to manage this rare and non-heritable syndrome.
A vascular tissue neoplasm is a tumor arising from endothelial cells, the cells that line the wall of blood vessels and lymphatic vessels, as well as the heart. Vascular tissue neoplasms is a group containing tumors with the same tissue origin; in other words, it denotes histological classification, rather than anatomic (i.e. where in the body the neoplasm is found) or clinical one. They can occur everywhere in the body where vessels are to be found.
Phakomatosis pigmentovascularis is subdivided into five types:
- Type 1 PWS + epidermal nevus
- Type 2 (most common): PWS + dermal melanocytosis +/- nevus anemicus
- Type 3: PWS + nevus spilus +/- nevus anemicus
- Type 4: PWS + nevus spilus + dermal melanocytosis +/- nevus anemicus
- Type 5: CMTC (Cutis marmorata telangiectatica congenita) + dermal melanocytosis
They all can contain capillary malformation. Type 2 is the most common and can be associated with granular cell tumor. Some further subdivide each type into categories A & B; with A representing oculocutaneous involvement and subtype B representing extra oculocutaneous involvement. Others have proposed fewer subtypes but currently this rare entity is mostly taught as having five subtypes currently.