Bonnet-Dechaume-Blanc syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords: Wyburn mason's syndrome; Retinoencephalofacial angiomatosis

CT scan showing intracranial hemorrhage

Overview

Bonnet-Dechaume-Blanc syndrome or Wyburn mason's syndrome or Retinoencephalofacial angiomatosis is a rare arteriovenous malformation (AVMs) condition. In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.

Historical Perspective

• Bonnet-Dechaume-Blanc syndrome was first discovered by Magnus, in 1874.
• In 1932, Yates and Payne was the first to discover retinal and cerebral arteriovenous malformation (AVMs) in patients with Bonnet-Dechaume-Blanc syndrome.
• In 1937, Bonnet, Dechaume and Blanc was the first to discover arteriovenous malformations in face, retina, and brain.

Pathophysiology

• The exact pathogenesis of Bonnet-Dechaume-Blanc syndrome is not completely understood.
• It is understood that Bonnet-Dechaume-Blanc syndrome may be caused by genetic factors but which are involved are difficult to say.
• It is understood that Bonnet-Dechaume-Blanc syndrome is also may be caused by anomaly in organogenesis.
• Origin of cells of the vessel walls in the cephalic region in the brain, and their migration may explain the connection between lesions looks alike but at different locations in the body.
• Vision loss in patients with Bonnet-Dechaume-Blanc syndrome can be due to retinal arteriovenous malformations(AVM) which are tend to be large and lead to obscuration of the visual centers in the eye.
• Vision loss in patients with Bonnet-Dechaume-Blanc syndrome can also be due to compression of retinal arteries by arteriovenous malformations(AVM)
• In gestational period of the fetus vascular dysgenesis of anterior plexus may occur and leads to AVMs.
• Large network of arteriovenous malformations(AVM) in an area look like "bag-of-worms" and are characterized by direct artery-to-vein communication devoid of capillaries that results in high pressure blood flow.

Causes

• The cause of Bonnet-Dechaume-Blanc syndrome has not been identified.

Genetic Causes

• Bonnet-Dechaume-Blanc syndrome may be is caused by a mutation in the genes.

Epidemiology and Demographics

Incidence

• Fewer than 100 cases of Bonnet-Dechaume-Blanc syndrome have been reported worldwide.

• The incidence of Bonnet-Dechaume-Blanc syndrome is unknown yet.

Prevalence

• The prevalence of Bonnet-Dechaume-Blanc syndrome is unknown yet.

Race

• There is no racial predilection to Bonnet-Dechaume-Blanc syndrome.

Gender

• Bonnet-Dechaume-Blanc syndrome affects men and women equally.