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Multiple Cutaneous and Mucosal Venous Malformations.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2008 Sep 18 [updated 2015 Jan 29].

Excerpt

CLINICAL CHARACTERISTICS:

The condition multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and/or mucosal venous malformations. They are usually present at birth. New lesions appear with time. Small lesions are usually asymptomatic; larger lesions can invade subcutaneous muscle and cause pain. Malignant transformation has not been reported.

DIAGNOSIS/TESTING:

Diagnosis of VMCM is based on clinical evaluation of the cutaneous and mucosal lesions. Doppler ultrasound examination and MRI can be used to confirm the venous component and extent of lesions. TEK (also known as TIE2) is the only gene in which pathogenic variants are known to cause VMCM.

MANAGEMENT:

Treatment of manifestations: Sclerotherapy, alone or in combination with plastic and reconstructive surgery, is used depending on the size and location of the lesions. When D-dimers are elevated, low molecular-weight heparin can be used to treat the associated pain. Prevention of secondary complications: If the D-dimer level is greater than twice the normal range, low molecular-weight heparin should be initiated before any surgery to avoid disseminated intravascular coagulopathy. Agents/circumstances to avoid: Contraceptive pills with high estrogen levels. Evaluation of relatives at risk: Physical examination of at-risk neonates to identify those who can benefit from early treatment.

GENETIC COUNSELING:

VMCM is inherited in an autosomal dominant manner. Most individuals diagnosed with VMCM have an affected parent; the proportion of cases caused by de novo mutation is unknown; none has been reported to date. Each child of an individual with VMCM has a 50% chance of inheriting the pathogenic variant. Prenatal testing for pregnancies at increased risk is possible if the TEK pathogenic variant has been identified in an affected family member.

Copyright © 1993-2015, University of Washington, Seattle. All rights reserved.

PMID:
20301733
[PubMed]
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