Ambras Syndrome

Definition

Definition of Ambras Syndrome
Ambras syndrome is a genetic condition characterized by excessive hair throughout the body. It is also known as “hypertrichosis lanuginosa”, congenital hypertrichosis universalis and congenital hypertrichosis lanuginose. Ambras syndrome affects only one person in 1 billion people. Less than 40 cases of Ambras syndrome have been documented worldwide. This condition is said to have genetic component with family histories of Ambras syndrome being reported in relation to affected patients. In the 19th century, people suffering from Ambras syndrome perform in sideshow acts or circuses. People described as “wolfmen” or “werewolves” due to their excessive hair growth are most likely sufferers of Ambras syndrome.

Symptoms

Symptoms of Ambras Syndrome
The list of signs and symptoms mentioned in various sources for Ambras syndrome includes the 2 symptoms listed below:

1. Excessive hair growth
2. Dysmorphic features

Causes

Causes of Ambras Syndrome
The first hairs made by an embryo's hair follicles inside the womb are called “lanugo hairs”, which grow unpigmented, fine and long. However, when the embryo reaches 8 months gestation, lanugo hairs are normally shed off and replaced by fine vellus hair to prepare for birth. While a few lanugo hairs may survive after birth, these are usually shed shortly after. When a child is born with plenty or all of the lanugo hairs, this child looks like he or she is covered in light fur. This appearance and excessively long hair throughout the body will persist throughout life.

Features

Features of Ambras Syndrome
Ambras syndrome is present since birth and normally persists throughout life. Sufferers of this disease have all-over long, body hair growth that is non-pigmented. However, all affected hair is fully pigmented terminal hair. This condition is usually associated with teeth defects. Some patients with congenital hypertrichosis lanuginose develop hair in limited body parts, such as face, arms, torso and legs.

Treatment

Treatment of Ambras Syndrome
There is no available treatment for Ambras syndrome other than depilation.