- Neurofibromatosis type 1
- Neurofibromatosis type 2
- Schwannomatosis
- How to confirm the diagnosis
- Who is at higher risk of neurofibromatosis
Although neurofibromatosis is a genetic disease, which is already born with the person, the symptoms can take several years to manifest and do not appear the same in all affected people.
The main symptom of neurofibromatosis is the appearance of soft tumors on the skin, such as those shown in the image:
However, depending on the type of neurofibromatosis, other symptoms may be:
Neurofibromatosis type 1
Type 1 neurofibromatosis is caused by a genetic change in chromosome 17, causing symptoms such as:
- Coffee-colored patches with milk on the skin, approximately 0.5 cm; Freckles in the inguinal region and armpits noticed until 4 or 5 years of age; Small nodules under the skin, which appear at puberty; Excessively sized bones with low bone density; Small dark spots in the iris of the eyes.
This type usually manifests itself in the first years of life, before the age of 10, and is usually of moderate intensity.
Neurofibromatosis type 2
Although less common than neurofibromatosis type 1, type 2 arises from a genetic change in chromosome 22. Signs can be:
- Emergence of small bumps on the skin, from adolescence; Gradual reduction of vision or hearing, with early development of cataracts; Constant ringing in the ears; Difficulties of balance; Spine problems, such as scoliosis.
These symptoms usually appear in late adolescence or early adulthood and can vary in intensity, depending on the location affected.
Schwannomatosis
This is the rarest type of neurofibromatosis that can cause symptoms such as:
- Chronic pain in some part of the body, which does not improve with any treatment; Tingling or weakness in various parts of the body; Loss of muscle mass without apparent cause.
These symptoms are more common after the age of 20, especially between the ages of 25 and 30.
How to confirm the diagnosis
The diagnosis is made through the observation of the bumps on the skin, and with x-rays, tomography and genetic blood tests, for example. This disease can also cause differences in color between the two patient eyes, an alteration that is called heterochromia.
Who is at higher risk of neurofibromatosis
The biggest risk factor for having neurofibromatosis is having other cases of the disease in the family, since almost half of the affected people inherit the genetic alteration from one parent. However, the genetic mutation can also arise in families that have never had the disease before, making it difficult to predict whether the disease will appear.
