Unifocal (isolated) venous malformation Q27.9

Last updated on: 18.05.2024

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HistoryThis section has been translated automatically.

The title TEK-associated venous malformations (VM) is based on the dual naming system proposed by Biesecker et al. (2021) for the differentiation of genetic disorders. Therefore, this term encompasses all previously known TEK-associated VM phenotypes, including multiple cutaneous and mucosal VM (VMCM), multifocal sporadic VM (MSVM), unifocal (isolated) VM and blue-rubber bleb nevus (BRBN) syndrome.

History: Terms previously used to describe VM include "cavernous angioma", "cavernous hemangioma" and "veinctasia". The term "mucocutaneous venous malformation" was coined in 1994 for the vascular lesions identified in a large multigenerational family from the United States in which the TEK locus was first identified (Boon et al. 1994).

Occurrence/EpidemiologyThis section has been translated automatically.

Venous malformations (VM) are often regarded as the most common subtype of vascular malformations. They occur in maternity hospitals with an incidence of between 1:2,000 and 1:5,000 live births. More than 90 % of VM occur sporadically and in isolation (Wassef et al. 2015). Although the prevalence of TEK-related VM such as MSVM, VMCM and BRBN syndrome is not known, it is far lower than that of sporadic unifocal VM. VMCM is estimated to account for less than 1% of individuals with venous anomalies treated in multidisciplinary centers specializing in vascular anomalies (Boon et al 2004).

EtiopathogenesisThis section has been translated automatically.

Genotype-phenotype correlations: The phenotypic spectrum of individuals with somatic pathogenic TEK variants is broader than that of individuals with pathogenic TEK germline variants. As a result of somatic mosaicism, the percentage, type and location of cells affected by a pathogenic variant may vary considerably between affected individuals. Some pathogenic TEK variants may be associated with a particular subtype of TEK-associated VM. C.2740C>T (p.Leu914Phe)is the most common variant detected in TEK-related unifocal vascular malformation. It has not been observed in other clinical vascular malformations (Boon et al 2011).

LocalizationThis section has been translated automatically.

About 40% of VM occurs in the extremities, 40% in the cervicofacial region and 20% in the trunk.

Clinical featuresThis section has been translated automatically.

TEK-related venous malformations (VM) are slow-flowing venous lesions that appear as a light to dark skin discoloration over a soft, compressible mass and develop mainly in skin, subcutaneous or mucosal tissue.

In principle, venous malformations (VM) can affect any tissue or organ, including the skin, muscles, joints, intestines and central nervous system. They are usually present at birth.

Venous malformations grow and expand slowly over time (Dompmartin et al 2010). Palpation may reveal phleboliths that had developed due to long-standing local thrombosis. A rapid increase in the size of the lesions can be observed following trauma or hormonal modulation (e.g. during puberty or pregnancy).

The clinical picture is therefore variable and depends on the size, location and mass effect on neighboring organs. The most common complications of unifocal VM include aesthetic deformities and chronic pain due to joint, tendon or muscle involvement.

Depending on the organ or area affected, functional limitations range from muscle weakness and limb length discrepancy to difficulty eating, speaking, breathing and physical deformities. Other symptoms include bleeding and, in the case of combined venolymphatic malformations, recurrent infections and oozing. In some cases, VM can be life-threatening due to the expansion or obstruction of vital structures such as the airways.

LiteratureThis section has been translated automatically.

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Last updated on: 18.05.2024