Congenital plaque-type glomuvenous malformations presenting in childhood.
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.
Mallory
Susan Bayliss
SB
Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine, St Louis, MO, USA. smallory@im.wustl.edu
Enjolras
Odile
O
Boon
Laurence M
LM
Rogers
Erica
E
Berk
David R
DR
Blei
Francine
F
Baselga
Eulalia
E
Ros
Anne-Marie
AM
Vikkula
Miikka
M
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
D048868:Adaptor Proteins, Signal Transducing; C103024:GLMN protein, human