Ambras syndrome, also known as hypertrichosis, is associated with excessive hair growth. There are two types of Ambras syndrome – congenital and acquired. The congenital form of the disease is extreme rare and is always present at birth. Acquired Ambras syndrome develops after birth and is often associated with medication side effects, eating disorders and cancer.
Congenital Ambras syndrome is passed from parents to children. If the father is affected by the 8q chromosome mutation, he can pass the condition on to female offspring, but not male offspring. Mothers with the genetic mutation have a 50% chance of passing Ambras syndrome on to male and female offspring.
Symptoms of Ambras syndrome are dependent on the specific type of hypertrichosis the patient suffers from. In cases of congenital Ambras syndrome patients can suffer from hypertrichosis lanuginosa, generalized hypertrichosis, terminal hypertrichosis, circumscribed hypertrichosis, localized hypertrichosis or nevoid hypertrichosis. Acquired forms of the condition include hypertrichosis lanuginosa, generalized hypertrichosis, patterned hypertrichosis and localized hypertrichosis.
All forms of Ambras syndrome are associated with excessive hair growth. Congenital forms are present at birth, but excessive hair growth, thickness and/or pigmentation may not be noticeable until years later. In severe cases, especially cases of terminal hypertrichosis, hair growth is excessive on all areas of the body. The term werewolf syndrome is commonly used to describe patients with terminal Ambras syndrome.
The most common complication of Ambras syndrome is difficulty in social situations. Excessive hair growth can affect self-esteem and ability to build and maintain personal relationships.
Testing and Diagnosis
Ambras syndrome is generally diagnosed based on visualization of excessive hair growth, but testing may be used to determine the cause of excessive hair growth. Acquired Ambras syndrome may be associated with drug side effects, hormonal disorder or certain forms of cancer.
There is no treatment for congenital Ambras syndrome. Patients may choose to shave, pluck or have hair removed using electrical methods. Efficacy ranges from a few hours after shaving to permanent hair removal if electrology is used.
Patients with acquired Ambras syndrome typically notice reduced hair growth after the underlying condition is treated or cured.
There is no change in lifespan in patients with congenital Ambras syndrome. Acquired forms of the condition may be associated with reduced lifespan if cancer or other life-threatening conditions are found to be the cause of excessive hair growth. Treating the underlying cause may improve quality of life and increase lifespan.