Types of disease
Neurofibromatosis type 1, formerly known as Recklinghausen disease, is much more common and is associated with changes in a gene that regulates cell growth. It is characterized by skin manifestations and neurofibromas - soft nodules along the nerves. Neurofibromatosis type 2 is caused by a different gene, there are few skin manifestations, and the main problem is bilateral vestibular schwannomas and other tumors of the nervous system. A separate category is schwannomatosis, in which chronic pain becomes the leading symptom. All forms are inherited in an autosomal dominant manner, but about half of cases are due to new mutations.
- Neurofibromatosis type 1 is the most common
- Neurofibromatosis type 2 - tumors of the auditory nerves
- Schwannomatosis with severe pain syndrome
- Autosomal dominant inheritance
- About half of the cases are new mutations
How does neurofibromatosis type 1 manifest?
The first to be noticed are café-au-lait spots: smooth, light brown spots on the skin that become larger and more numerous with age. Later, small freckle-like rashes appear in the armpits and inguinal folds - a sign very characteristic of this disease. Neurofibromas—soft nodules on and under the skin—commonly occur during adolescence and may enlarge during pregnancy. When examined by an ophthalmologist, special nodules are found on the iris of the eye. Bone changes, scoliosis, and learning difficulties are also possible.
- Cafe-au-lait stains
- Freckles in the armpits and inguinal folds
- Neurofibromas on the skin and along the nerves
- Nodules on the iris of the eye
- Scoliosis and other bone changes
- Features of learning and attention in children
- High blood pressure
Survey
The diagnosis of the first type is made by a combination of clinical signs, so a careful examination of the skin of the whole body, an examination of the parents and an examination by an ophthalmologist with a lamp are important. Contrast-enhanced magnetic resonance imaging of the brain, optic pathways, and spine identifies tumors that may not cause symptoms. Ultrasound helps evaluate subcutaneous formations. Genetic research is used when the picture is unclear, to confirm the type and for family planning. Children need regular monitoring of growth, blood pressure, vision and posture.
- Examination of the skin and mucous membranes
- Consultation with an ophthalmologist
- MRI of the brain and visual pathways with contrast
- MRI of the spine for neurological symptoms
- Ultrasound of soft tissues
- Genetic research
- Control of blood pressure and posture in children
Observation and treatment
There is no therapy that eliminates the cause of the disease, so routine monitoring becomes the basis: annual examination by a neurologist, ophthalmologist and dermatologist, blood pressure monitoring, and in children, assessment of growth and development. Individual neurofibromas are removed if they are obstructive, traumatic, or located in a cosmetically significant area; It should be remembered that after removal, new ones may appear. For tumors of the optic pathways and large plexiform neurofibromas, modern targeted drugs are used, prescribed in specialized centers. Pain, scoliosis, and learning difficulties are treated separately with the involvement of specialized specialists.
- Annual examination by a neurologist and ophthalmologist
- Blood pressure control
- Monitoring growth and posture in children
- Surgical removal of individual formations
- Targeted therapy for certain tumors
- Pain relief and rehabilitation
- Pedagogical support for learning difficulties
Family and inheritance issues
The risk of transmitting the disease to a child from a sick parent is fifty percent, regardless of gender. At the same time, the severity of manifestations in one family can vary greatly: in a parent the disease is mild, while in a child it is more severe, and this cannot be predicted in advance. Therefore, when planning a pregnancy, it is recommended to consult a geneticist to discuss the possibilities of prenatal and preimplantation diagnostics. It is important for parents of a child with café-au-lait spots not to engage in self-diagnosis: individual spots can also be found in healthy children.
- The risk for each child is fifty percent.
- The severity of manifestations is unpredictable
- Consultation with a geneticist when planning pregnancy
- Examination of parents when a child is diagnosed
- Isolated spots in healthy children are a normal variant
- Psychological support for family
- Information only from reliable sources