Wyburn-Mason Syndrome

Excerpt

Wyburn-Mason syndrome (WMS), also known as racemose angioma, is a congenital nonhereditary neurocutaneous syndrome or phakomatoses that presents with multiple arteriovenous malformations (AVM). WMS has varied phenotypical expressions but predominantly affects the face and brain. Bonnet, Dechaume, and Blanc were first to recognize AVM of face, retina, and brain in the year 1937 and Wyburn-Mason described in detail about this disease in 1943. In recognition of these authors, this disease is referred to as Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome.

The AVM range in size but often tend to be large. When involving the brain, these AVM tend to localize to the midbrain region, thus necessitating neurologic imaging to rule out life-threatening or potentially debilitating lesions in this area. The ophthalmoscopic presentation of the AVM in WMS is characteristic with dilated and tortuous vessels present over the optic disc and extending variably to the retinal periphery. Presenting vision may range from normal to no light perception and depends upon the associated ophthalmic complications. Vascular malformations may be present elsewhere in the body. Wyburn-Mason syndrome does not cause significant cutaneous manifestations, except for the rare occurrence of small facial angioma over the trigeminal region of the face.