Malformation vascular (overview) Q28.88

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Angiodysplasia; congenital malformations; malformations; Malformation vascular; vascular malformation; vascular malformations; Vascular malformations; vascular malformations (e)

Definition
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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).

Classification
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The sometimes confusing morphological diversity of vascular tumours and malformations (which vascular area is affected: capillary, vein, artery, mixed?), their localisation in different parts of the skin-subcutaneous-muscle compartment, their often difficult etiological classification (malformation or true neoplasia?) makes a universally satisfactory classification difficult but unavoidable. In the difficult systematic classification of vascular malformations, one can proceed according to the following aspects:

Etiological classification:

  • Malformation
  • true neoplasia

Histopathological classification:

  • capillary (capillary malformation, KM - Port-wine stain - Naevus 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)

Haemodynamic/ functional assignment:

  • low-flow
  • high-flow

Classification of vascular malformations according to pathological-anatomical aspects:

Lymphatic (partly syn. with lymphangioma - see below malformation lymphatic)

Other:

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 little or no flow velocity.

Etiopathogenesis
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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).

Note(s)
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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".

Literature
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  1. Baumann NM et al (1997) Treatment of massive or life-threatening hemangiomas with recombinant alfa-2a interferon. Otolaryngol Head Neck Surg 117: 99-110
  2. Castel P et al(2016) Somatic PIK3CA mutations as a driver of sporadic venous malformations. Sci Transl Med 8(332):332ra42.
  3. 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
  4. Mulliken JB (1988) Diagnosis and natural history of hemangiomas. In: Vascular birthmarks: Hemangiomas and vascular malformations. Saunders, Philadelphia
  5. Seyberth HW et al (2002) Advanced extracranial hemangiomas and vascular malformations. Dtsch Ärztebl 99: A-188 / B-153 / C-149

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020