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Vascular malformations affect many organs, but they are often first detected in the skin. Venous malformations are the second most frequent vascular malformation, after port wine stains. A report of 12 previously unreported families with autosomal dominantly inherited mucocutaneous malformations illustrates important characteristics of the lesions in patients with venous malformations, and a related group of investigators evaluated the utility of D-dimer testing in the differential diagnosis of such disorders.
The lesions can appear as small cutaneous malformations; in these patients, they were often multifocal, soft, and compressible mucosal lesions sited on the tongue, buccal mucosa, and lips. Many patients had other underlying vascular co…