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

Last updated on: 16.05.2024

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

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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).

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

Clinical features
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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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  1. Ada F et al. (2018) Surgical treatment of Servelle-Martorell syndrome. Turk Gogus Kalp Damar Cerrahisi Derg 26:301-304.
  2. Ali B et al. (2020) Diffuse venous malformations of the upper extremity (Bockenheimer disease): diagnosis and management. Plast Reconstr Surg 146:1317-1324.
  3. Ballieux F et al (2015) Blue bleb rubber nevus syndrome. Handb Clin Neurol 132:223-230.
  4. Beluffi G et al. (2004) Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome. Pediatr Radiol 34:742-745.
  5. Bhatnagar A et al. (2012) A rare case of servelle martorelle syndrome-extensive angioosteohypotrophic lesion of upper limb. World J Surg Res 1:6-11.
  6. Biesecker LG et al. (2021) A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet 108:8-15.
  7. Blei F et al. (1998) Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait. Arch Dermatol 134:718-722.
  8. Boon LM et al. (1994) Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet 3:1583-1587.
  9. Boon LM et al. (2011) Pathogenesis of vascular anomalies. Clin Plast Surg. 2011a;38:7-19.
  10. Boon LM et al. (2013) Molecular genetics of vascular malformations. In: Mulliken JB, Burrown PE, Fishman SJ, eds. Mulliken and Young's Vascular Anomalies: Hemangiomas and Malformations. 2 ed. New York, NY: Oxford University Press: 327-375.
  11. Boon LM et al.(2011) Vascular malformations. In: Irvine A, Hoeger P, Yan A, eds. Harper's Textbook of Pediatric Dermatology. 3 ed. Wiley-Blackwell:112.1-112.24.
  12. Boon LM, Mulliken JB, Enjolras O, Vikkula M. Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol. 2004;140:971-6. [PubMed]
  13. Brouillard P et al. (2013) Genotypes and phenotypes of 162 families with a glomulin mutation. Mol Syndromol 4:157-164.
  14. Kubiena HF et al. (2006) Genuine diffuse phlebectasia of Bockenheimer: dissection of an eponym. Pediatr Dermatol 23:294-297.
  15. Nahm WK et al. (2004) Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation. J Am Acad Dermatol 50(5 Suppl):101-106.
  16. Pasyk KA et al. (1984) Familial vascular malformations. Report of 25 members of one family. Clin Genet 26:221-227.
  17. Seront E et al. (2018) Venous Malformations of the Head and Neck. Otolaryngol Clin North Am 51:173-184.
  18. Seront E et al (2024) TEK-Related Venous Malformations. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301733.
  19. Soblet J et al. (2013) Variable somatic TIE2 mutations in half of sporadic venous malformations. Mol Syndromol 4:179e83.
  20. Soblet J et al. (2017) Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations. J Invest Dermatol 137:207-216.
  21. Wouters V et al. (2008) TIE2 and cutaneomucosal venous malformation. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, eds. Inborn Errors of Development. New York, NY: Oxford University Press.
  22. Wouters V et al. (2010) Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. Eur J Hum Genet 18:414-420.
  23. Zhou J et al. (2021) Efficacy and safety of sirolimus for blue rubber bleb nevus syndrome: a prospective study. Am J Gastroenterol 116:1044-1052.


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Last updated on: 16.05.2024