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Glomuvenous Malformation (Glomangioma) and Venous Malformation
Distinct Clinicopathologic and Genetic Entities
Laurence M. Boon, MD, PhD;
John B. Mulliken, MD;
Odile Enjolras, MD;
Miikka Vikkula, MD, PhD
Arch Dermatol. 2004;140:971-976.
Objectives To develop clinical criteria that permit clinical distinction between inherited glomuvenous malformation (GVM), known as glomangioma, and inherited cutaneomucosal venous malformation and to test these criteria on sporadic lesions.
Design Clinical data were compiled for 1685 patients with inherited or sporadic cutaneous venous anomalies. Based on a cohort of patients with a mutation in the TIE2 or glomulin gene or a histologic diagnosis, we defined clinical criteria for inherited GVM and cutaneomucosal venous malformation. We then applied these criteria to sporadic cases in a blinded manner and genetically or histologically confirmed this clinical diagnosis whenever possible.
Results Glomuvenous malformations accounted for 5.1% of venous anomalies and were frequently inherited (63.8%), whereas venous malformations were rarely familial (1.2%). Glomuvenous malformations were nodular and scattered, or plaque-like and segmental, with color varying from pink to purplish dark blue, whereas most venous malformations (VMs) were soft, blue, and often localized vascular lesions. Glomuvenous malformations were mainly located on the extremities and involved skin and subcutis, whereas VMs commonly affected muscles and joints (P<.001). Glomuvenous malformations had a distinct raised, often hyperkeratotic cobblestone-like appearance and could not be completely emptied by compression, unlike VMs. Glomuvenous malformations were painful by compression, whereas VMs were painful on awakening, after activity, or with hormonal changes. Elastic compressive garments aggravated pain in GVMs, in contrast to VMs.
Conclusions This large series of patients with superficial venous anomalies established clinical features that distinguish VMs and GVMs. This differential diagnosis is essential, as the outcome and the treatment for GVMs differ.
From the Division of Plastic Surgery, Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc (Dr Boon), and Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Université Catholique de Louvain (Drs Boon and Vikkula), Brussels, Belgium; Division of Plastic Surgery, Vascular Anomalies Center, Children's Hospital, Boston, Mass (Dr Mulliken); and Consultation des Angiomes, Hôpital Lariboisière, Paris, France (Dr Enjolras). The authors have no relevant financial interest in this article.
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