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Title: GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations. Author: McMahon MH, Tahir N, Balasubramanian M. Journal: BMJ Case Rep; 2022 Jun 22; 15(6):. PubMed ID: 35732373. Abstract: Cutaneous venous malformations frequently present with blue-pink lesions on the skin or mucosal surfaces. They can be problematic for patients who experience pain or unsightly lesions and can also be associated with significant bleeding. A proportion of venous malformations have been noted to occur in families, in particular glomuvenous malformations (GVMs). A 'two-hit' occurrence of genetic pathogenic variants appears to explain the appearance of GVMs, with the initial change in the germline copy of GLMN followed by a second somatic hit. Here we discuss a report of siblings experiencing such lesions, which were diagnosed as GVMs by genetic testing. We include a review of the literature regarding the clinical and genetic differences between these groups of venous malformations.[Abstract] [Full Text] [Related] [New Search]