U.S. flag

An official website of the United States government


Send to:

Choose Destination

Multiple cutaneous and mucosal venous malformations(VMCM)

MedGen UID:
Concept ID:
Congenital Abnormality
Synonym: VMCM
SNOMED CT: Multiple cutaneous and mucosal venous malformation (699301008); Mucocutaneous venous malformations (699301008); Multiple venous malformation of skin and mucous membrane (699301008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): TEK (9p21.2)
Monarch Initiative: MONDO:0010842
OMIM®: 600195
Orphanet: ORPHA2451

Disease characteristics

Excerpted from the GeneReview: TEK-Related Venous Malformations
TEK-related venous malformations (VM) encompass a range of phenotypes. Following the International Society for the Study of Vascular Anomalies (ISSVA) classification, these include common VM (unifocal/isolated VM or multifocal sporadic VM [MSVM]), multiple cutaneous and mucosal VM (VMCM), and blue rubber bleb nevus (BRBN) syndrome. VM are usually present at birth and grow with time, and new lesions can appear over time in individuals with MSVM, VMCM, and BRBN syndrome. Small lesions are usually asymptomatic; larger lesions can extend into other tissues, including subcutaneous tissues and muscles, causing pain and functional limitations. Malignant transformation has not been reported in TEK-related VM to date. [from GeneReviews]
Emmanuel Seront  |  Laurence M Boon  |  Miikka Vikkula   view full author information

Additional descriptions

Cutaneomucosal venous malformation (VMCM) is an uncommon, heritable form of venous malformation in which lesions tend to be multifocal and small. They are composed of grossly dilated vascular spaces lined by a single continuous layer of endothelial cells, with areas of relative lack of surrounding mural cells, suggesting a defect in their recruitment. Some VMCM patients have venous malformations located in internal organs, and some have additional anomalies, including cardiac malformations (summary by Wouters et al., 2010). Another form of autosomal dominant venous malformation, blue rubber bleb nevus (112200), is of uncertain relationship to VMCM. Multiple cerebrovenous anomalies without cutaneous lesions are also familial; see cerebral cavernous malformations (116860). Glomuvenous malformations (138000) are similar to but clinically distinguishable from VMCMs.  http://www.omim.org/entry/600195
From MedlinePlus Genetics
Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling.

Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.  https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations

Clinical features

From HPO
Venous malformation
MedGen UID:
Concept ID:
Congenital Abnormality
A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.
Intestinal bleeding
MedGen UID:
Concept ID:
Bleeding from the intestines.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple cutaneous and mucosal venous malformations

Professional guidelines


Colletti G, Valassina D, Bertossi D, Melchiorre F, Vercellio G, Brusati R
J Oral Maxillofac Surg 2014 Mar;72(3):510-28. Epub 2013 Oct 16 doi: 10.1016/j.joms.2013.08.008. PMID: 24139296

Recent clinical studies


Henning JS, Kovich OI, Schaffer JV
Dermatol Online J 2007 Jan 27;13(1):17. PMID: 17511950

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...