Schwannomatosis

Beschreibung

Schwannomatosis is a disorder characterised by multiple noncancerous (benign) tumours called schwannomas, which are a type of tumour that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumour.

The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumours. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumours and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal.

Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterised by the growth of tumours in the nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2. The features of schwannomatosis can be very similar to those of neurofibromatosis type 2. However, schwannomatosis almost never includes inner ear tumours called vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. Additional features of the other forms of neurofibromatosis, including the development of other types of tumours, are much less common in schwannomatosis.

Inheritance patterns

The source lists the following possible inheritance patterns: Pattern unknown; Autosomal dominant. More than one pattern can apply in different cases.

Related genes

• NF2

• SMARCB1

• LZTR1

Other names

Multiple neurilemmomas

Multiple schwannomas

Neurilemmomatosis

Neurilemmomatosis, congenital cutaneous

Neurinomatosis

Neurofibromatosis type 3