Bonnet–Dechaume–Blanc syndrome
Wyburn-Mason syndrome (WMS), sometimes called Bonnet-Dechaume-Blanc
syndrome or retinoencephalofacial angiomatosis, is an uncommon nonhereditary
congenital phakomatosis marked by arteriovenous malformations (AVMs) of the
retina, brain, and, in some cases, facial skin. Wyburn-Mason syndrome is
frequently asymptomatic and unilateral.
Wyburn-Mason syndrome, often referred to as Bonnet-Dechaume-Blanc
syndrome, is an uncommon congenital condition marked by arteriovenous
malformations of the brain, retina, or face nevi. In rare cases, the skin, bones,
kidneys, muscles, and gastrointestinal tract may be affected by the illness, which
has a variety of potential symptoms. Serious headaches, seizures, acute stroke,
meningitis, and progressive neurological impairments can occur when the
condition affects the brain. These symptoms are brought on by acute or chronic
ischaemia brought on by arteriovenous shunting.
Retinal lesions can be unilateral and tortuous, and symptoms first develop in the
second and third decades of life. They are associated with reduced visual acuity,
proptosis, pupillary abnormalities, optic atrophy, congestion of bulbar
conjunctiva, and visual field defects.
Skin lesions or skin that is unusual in texture, thickness, or colour may be present,
commonly on the face, as a symptom of the illness. The disease can result in a
variety of facial characteristics, including minor skin discoloration and severe nevi
and angiomas. In certain cases, the frontal and maxillary sinuses may also be
impacted.
As of 2012, there were only 52 documented examples of people with Bonnet-
Dechaume-Blanc syndrome. Seldom do symptoms appear in young children, and
fluorescein angiography is frequently utilised to make the diagnosis of the
condition when visual impairment is first recognised in late childhood or early
adulthood.
The Bonnet-Dechaume-Blanc condition has been treated using a variety of
techniques. Unfortunately, it is unclear whether course of action is best. Surgical
intervention has been used to treat patients with intracranial lesions, and in some
