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Congenital Plaque-Type Glomuvenous Malformations Presenting in Childhood
Susan Bayliss Mallory, MD;
Odile Enjolras, MD;
Laurence M. Boon, MD, PhD;
Erica Rogers, MD;
David R. Berk, MD;
Francine Blei, MD;
Eulalia Baselga, MD;
Anne-Marie Ros, MD;
Miikka Vikkula, MD, PhD
Arch Dermatol. 2006;142:892-896.
Background Glomuvenous malformations (GVMs) are now considered a separate entity from venous malformations. The rarest type of GVM is the generalized congenital plaque-type GVM.
Observations We present 10 new cases of congenital plaque-type GVM and describe their clinical progression and treatment. Mutations in the glomulin gene were found in those patients who participated in the genetic study.
Conclusions Congenital plaque-type GVMs are unique in their congenital nature, extensive distribution, difficult to diagnose and treat, and progressive involvement after birth. Most cases are familial, yet affected relatives usually have only minor lesions. The lesions of congenital plaque-type GVM are severe, visible at birth, and usually mistaken for extensive venous malformations. Vascular malformations are divided by hemodynamic type into slow-flow and fast-flow lesions. Slow-flow lesions are subcategorized as capillary, lymphatic, and venous.1 Capillary malformations are flat, sharply demarcated, red-pink vascular stains of the skin commonly referred to as port-wine stains. These persist throughout life and are characterized histologically by dilated capillaries within the dermis. They slowly increase in size with age. Lymphatic malformations are spongelike collections of abnormal channels and spaces that contain clear lymphatic fluid, causing an excess of fluid to accumulate and dilate the lymphatic channels. This results in swelling of the affected area and, if extensive, can cause enlargement of soft tissues and bones.
Author Affiliations: Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine, St Louis, Mo (Drs Mallory, Rogers, and Berk); Consultation Multidisciplinaire des Angiomes, Hôpital Lariboisière, Paris, France (Dr Enjolras); 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, University of Louvain Medical School (Drs Boon and Vikkula), Brussels, Belgium; Department of Pediatrics, Stephen D. Hassenfeld Center of New York University Medical Center, New York (Dr Blei); Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain (Dr Baselga); and Unit of Dermatology and Venereology, Department of Medicine, Karolinska Hospital, Stockholm, Sweden (Dr Ros).
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