DefinitionThis section has been translated automatically.
Frequent, syndromal or non-syndromal, benign, mono- or polytopic vascular malformations as a result of abnormal embryonic tissue development. The clinical pictures summarized under the term "vascular malformation" can include vascular malformations in different tissues (skin, muscle, bone) or in different organs (e.g. skin and CNS).
In contrast to the infant's hemangioma, vascular malformations are always present in an established form at the time of birth, even though they may initially manifest themselves only discreetly over a period of years or remain completely unnoticed clinically.
Vascular malformations initially show a growth in size proportional to the growth of the body, do not regress and may show an autonomous proliferation in the course of life (see also Naevus flammeus - Port-wine stain).
ClassificationThis section has been translated automatically.
The sometimes confusing morphological variety of vascular tumors and malformations (which vascular area is affected: capillary, vein, artery, mixed?), their localization in different parts of the skin-subcutaneous-muscle compartment, their often difficult etiological assignment (malformation or true neoplasia?) makes a universally satisfactory classification difficult, but inevitable. In the difficult systematic classification of vascular malformations one can proceed according to the following aspects:
- true neoplasia
- capillary (capillary malformation, KM - port-wine stain - nevus flammeus)
- venous (venous malformation or mixed, VM - or KM/VM - e.g. angiokeratoma circumscriptum)
- arterial (AM or mixed KM/VM/AM/AVM)
- lymphatic (LM or mixed KM/VM/AM/LM)
Hemodynamic/ functional assignment:
Classification of vascular malformations according to pathological-anatomical aspects:
- Arterial malformations (rarely isolated; mostly truncal malformations with hypo- and aplasias of peripheral arteries).
- Arterio-venous malformations (mostly in the context of complex malformations):
- Venous malformations (dysplasia of deep venous complexes - often affecting the limb vessels, but other body regions may also be affected, formation of venous aneurysms):
- Dysplasia of deep veins of extremities (clinical: picture of chronic venous insufficiency).
- Dysplasia of the venous valves (avalvulia, hypovalvulia)
- Phlebectasia (deep/extrafascial venous systems or combination = Bockenheimer syndrome).
- Capillary and postcapillary malformations (KM):
- Non-syndromal capillary malformation (nevus flammeus/Port-wine stain):
- Syndromal capillary malformations (complex mixed patterns - capillary/venous/capillary/postcapillary/arterial).
- Teleangiectatic malformations (see below teleangiectasia)
- So-called. Angiokeratomas (etiopathogenetically unrelated)
- Lymphangiomas, superficial and deep:
Classification according to haemodynamic criteria (low-flow and high-flow lesions):
- High-flow: AV fistulas, arterial and arteriovenous malformations.
- Low-flow: Capillary (e.g., nevus flammeus) and lymphatic malformations(lymphangiomas) show low or no flow velocities.
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Occurrence/EpidemiologyThis section has been translated automatically.
There are no exact figures for the number of affected people worldwide. In Germany itself, less than 0.5% of people suffer from this rare disease. According to estimates, this affects about 450,000 people.
EtiopathogenesisThis section has been translated automatically.
In sporadic nonfamilial patients with venous malformations, somatic mutations in the TEK gene associated with the presence of activating PIK3ca (phosphatidylinositol 3-kinase) mutations are detected in about half of the cases (Castillo P et al. 2016).
DiagnosticsThis section has been translated automatically.
People with vascular anomalies often go through many stages before their condition is correctly diagnosed and treated due to its rarity and diversity.
The care of patients with vascular anomalies should take place in specialized centers. It should be ensured that the necessary experts from different specialist groups work closely and interactively with each other across their specialist boundaries and that clinical and scientific knowledge is exchanged at regular intervals.
TherapyThis section has been translated automatically.
Therapy depends on the individual type and severity of the vascular anomaly, which must be successfully eliminated either minimally invasively or surgically. Symptomatic treatment of vascular malformations includes, among other things, compression therapy as well as orthopedic and physical measures in addition to individual pain therapy.
The majority of vascular anomalies can be treated minimally invasively with sclerotherapy or catheter procedures. Surgical interventions alone are less common, but are possible and useful, especially in combination with minimally invasive techniques.
Note(s)This section has been translated automatically.
The clinical subclassification of vascular malformations can be based on the patient's medical history, clinical course and clinical examination.
Venous and lymphatic malformations are soft and compressible; "high-flow" lesions appear solid. While lymphangiomas show a sudden growth in size during infection, venous malformations increase in volume when pressure is increased (pressing, bending forward). "High-flow lesions can be accompanied by an increase in temperature above the affected area and a palpable pulsation.
In the case of capillary/post-capillary malformations, the group of so-called angiokeratomas is listed. The diseases listed under 1-5 are based on metabolic diseases which appear dermatologically under the clinical picture of "Angiokeratoma corporis diffusum".
LiteratureThis section has been translated automatically.
- Baumann NM et al (1997) Treatment of massive or life-threatening hemangiomas with recombinant alfa-2a interferon. Otolaryngol Head Neck Surg 117: 99-110
- Castel P et al(2016) Somatic PIK3CA mutations as a driver of sporadic venous malformations. Sci Transl Med 8(332):332ra42.
- Mulliken JB, Glowacki J (1982) Hemangiomas and vascular malformations of infants and children: A classification based on endothelial characteristics. Plast reconstruction surgery 69: 412-422
- Mulliken JB (1988) Diagnosis and natural history of hemangiomas. In: Vascular birthmarks: Hemangiomas and vascular malformations. Saunders, Philadelphia
- Seyberth HW et al (2002) Advanced extracranial hemangiomas and vascular malformations. Dtsch Ärztebl 99: A-188 / B-153 / C-149
Incoming links (14)Angiodysplasia; Angiodysplasia syndromes; Clove syndrome; Fibrolipomatous hamartoma of the nerves; Focal nodular hyperplasia; hamartoma of the skin; Hemangiomas; Lymphangioma; Lymphangioma; Lymphangioma circumscriptum; ... Show all
Outgoing links (30)Angiokeratoma circumscriptum; Angiokeratome, solitary; Angioma serpiginosum; Arteriovenous malformation; Asymmetrical nevus flammeus (overview); Ataxia teleangiectatica; Blue rubber bleb nevus syndrome; Chronic venous insufficiency (overview); Cutis marmorata teleangiectatica congenita; Eccrine angiomatous hamartoma; ... Show all
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