What is a congenital alacrima?
Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis.
What is the life expectancy of a person with triple A syndrome?
The syndrome is highly variable. Managed effectively, affected individuals can have a normal lifespan and bear children.
What causes triple A syndrome?
Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller’s myotomy.
What is Triple A disease?
Collapse Section. Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus , the tube that carries food from the throat to the stomach.
Are Triple A’s hereditary?
Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome . Having a family history of AAA increases the risk of developing the condition.
What causes skin darkening in Addison’s disease?
It is caused by the stimulant effect of excess adrenocorticotrophic hormone (ACTH) on the melanocytes to produce melanin. The hyperpigmentation is caused by high levels of circulating ACTH that bind to the melanocortin 1 receptor on the surface of dermal melanocytes.
Why is it called Addison’s disease?
Addison’s disease is named after Thomas Addison, the British physician who first described the condition in On the Constitutional and Local Effects of Disease of the Suprarenal Capsules (1855).
Are aneurysms caused by stress?
Strong emotions, such as being upset or angry, can raise blood pressure and can subsequently cause aneurysms to rupture.
Are aneurysms preventable?
You can’t always prevent brain aneurysms, but you can lower your risk by not smoking and reducing high blood pressure.