title: Congenital plaque-type glomuvenous malformations presenting in childhood.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO, USA. smallory@im.wustl.edu
authors.forename: Susan Bayliss
authors.initials: SB
authors.lastname: Mallory
authors.forename: Odile
authors.initials: O
authors.lastname: Enjolras
authors.forename: Laurence M
authors.initials: LM
authors.lastname: Boon
authors.forename: Erica
authors.initials: E
authors.lastname: Rogers
authors.forename: David R
authors.initials: DR
authors.lastname: Berk
authors.forename: Francine
authors.initials: F
authors.lastname: Blei
authors.forename: Eulalia
authors.initials: E
authors.lastname: Baselga
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Ros
authors.forename: Miikka
authors.initials: M
authors.lastname: Vikkula
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D005918:Glomus Tumor / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012878:Skin Neoplasms / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C103024:GLMN protein, human