Venous malformations, multiple cutaneous und mucosal (sporadical) Q27.9

Multifocal sporadic VM (MSVM) is a sporadic variant of familial multifocal VM caused by pathogenic variants in TEK.

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).

Ubiquitous; MSVM occur more frequently in the cervicofacial region and on the extremities.

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.

Clinically, MSVMs are very similar to VMCMs, but without a family history. The lesions usually appear as multiple small (< 5 cm in diameter), raised lesions in various shades of blue affecting the skin and oral mucosa and occasionally the subcutaneous tissue and skeletal muscle. MSVMs occur more frequently in the cervicofacial area and on the extremities, typically have a hemispherical shape, are soft to the touch and rarely deflate with external pressure. Due to their small size, they are usually asymptomatic (Soblet et al 2017).

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