Venous malformations, multiple cutaneous und mucosal Q27.9

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 BRBN(blue-rubber bleb nevus) 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).

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).

This phenotype has been shown to be associated with mutations in the TEK gene.

Multiple cutaneous and mucosal VM usually occur disseminated throughout the body. They can also affect the oral mucosa; in rare cases, the gastrointestinal and/or anal mucosa can also be affected (Boon et al. 2012). Malignant transformations have not been reported to date.

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

Clinically characteristic of VMCM is the presence of small multifocal cutaneous and/or oral VM that are bluish in color (Boon et al. 2011, Boon et al. 2012, Boon et al. 2013). The size of the malformations ranges from 1 mm to 1 cm. Small lesions of millimeter size are usually asymptomatic. Depending on their size, they can cause cosmetic problems.

VM do not usually bleed or ulcerate. Larger lesions (with a diameter in the centimeter range) can penetrate the subcutaneous musculature and cause pain. The size, number and location of lesions vary within and between families.

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