Ms. Zhang's family lives an ordinary and quiet life, however, a few years ago, an unexpected discovery shattered this tranquility - Ms. Zhang's son Xuanxuan was diagnosed with neurofibromatosis (NF).
Everyone is relatively unfamiliar with this disease, and so is Ms. Zhang, why did her son get this disease.
The doctor's words solved the mystery, and all the reasons were on Xuanxuan's father.
What is neurofibromatosis?
Neurofibromatosis is a benign peripheral nerve disease that is an autosomal dominant disorder that histologically originates from the connective tissue of the nerve lining of the peripheral nerve sheath. This disease often affects organs that originate in the ectoderm, such as the nervous system, eyes, and skin, and is one of the common neurocutaneous syndromes.
So why is Xuan Xuan's disease related to his father?
Neurofibromatosis is a disease with significant hereditary properties.
Neurofibromatosis is a monogenic inherited disorder caused by mutations in specific genes. This mode of inheritance usually follows the pattern of autosomal dominant inheritance, meaning that an individual is at risk of developing the disease as long as the mutated gene is inherited from either parent. As a result, neurofibromatosis has a significant familial clustering, and patients often have a history of family members who also have the disease.
For NF1 and NF2 neurofibromatosis, if one parent is a patient, the risk of the child is relatively high. Specifically, there is a 50% probability that children will inherit the mutated gene and develop the disease, which reflects its high heritability.
After the doctor inquired, they learned that Xuanxuan's father did have a lot of neurofibromas, but they were very puzzled, many people in their rural hometown have pimples on their bodies, why are they hereditary?
Difference Between Neurofibromatosis and Lipoma.
This is because they are most likely lipomas, not neurofibromas, and there are some similarities in the symptoms between the two.
A lipoma is a benign tumour that usually occurs under the skin, and typically appears as a slow-growing, painless mass. When the finger is gently pushed, the lump can move slightly, and pushing the base of the tumor can cause the skin to appear orange-peel without pain.
Neurofibromatosis can also present as a single neurofibroma, which protrudes from the skin and can be palpable under the skin, and is round, nodular or fusiform, with both soft and hard qualities, and most of them are soft. It is also usually accompanied by symptoms such as café au lait spots, pain, etc.
Dangers of neurofibromatosis.
Although it is not cancer, the harm of neurofibroma should not be underestimated, and its impact on patients is multifaceted.
1. Appearance and psychological impact
Dermatoma: There may be multiple or even thousands of dermatomas throughout the patient's body, although these tumors have a low probability of malignant transformation, they are very significant in image and may have a great impact on the patient's psychology and appearance.
Pigmented spots: such as café au lait spots and freckles, these pigmented spots can also adversely affect the appearance.
Risk of disfigurement: Plexiform neurofibromas, in particular, may lead to disfiguring changes that further increase the psychological burden of the patient.
2. Neurological damage
Compression symptoms: As the size of fibroids increases, peripheral nerves may be compressed, resulting in symptoms such as pain, limited mobility, numbness, and in severe cases, nerve function may be affected.
Hearing loss: In NF2, bilateral acoustic neuromas can cause hearing loss or even loss.
Other neurological symptoms: Some patients may also present with neurological symptoms such as mental retardation, memory impairment, and seizures.
3. Abnormal skeletal development
Osteoporosis: Neurofibromatosis can lead to severe osteoporosis, which can lead to skeletal deformities such as chicken breast, pectus excavatum, etc.
Fractures and deformities: Patients may also develop bone problems such as fractures, tibial pseudoarthrosis, or severe scoliosis, which can affect normal growth and development, and quality of life.
4. Visual impairment
Optic nerve glioma: When a tumor grows close to the optic nerve, it can lead to vision impairment, including blindness and severe vision loss.
5. Other System Damages
Gastrointestinal symptoms: When the tumor involves the gastrointestinal tract, patients may present with symptoms such as abdominal pain and constipation.
Concomitant malignancy: Although neurofibromatosis itself is benign, patients may have other malignancies, such as leukemia, which further increases the complexity and difficulty of treatment.
6. Genetic risk
Familial clustering: Neurofibromatosis has significant familial clustering, and children and family members are at high risk.
Treatment of neurofibromatosis.
There are many different treatments for neurofibromatosis, but in general, it can be difficult to treat, especially for multiple and hereditary neurofibromatosis, and here are some common treatments.
1. Surgical treatment: For single or localized neurofibromas, surgical excision is the mainstay of treatment. However, for multiple and hereditary neurofibromatosis, surgery is often difficult to cure and may trigger new tumor growth.
2. Medication: Medication includes the use of non-steroidal drugs (e.g., indomethacin, aspirin) to relieve pain and inflammation, and the use of anti-epileptic drugs (e.g., trazodone, alprazolam) to control symptoms such as epilepsy. However, these drugs do not cure neurofibromas.
3. Chemoradiotherapy: For patients who are unable to undergo surgery or postoperative adjuvant therapy, chemoradiotherapy may be an option. However, chemoradiotherapy has significant side effects and limited therapeutic effect on neurofibromas.
4. Physical therapy: minimally invasive treatments such as laser and cryotherapy are suitable for small tumors, which can be delicately removed without damaging the surrounding tissues.
Again, for parents with neurofibromatosis, they must be cautious in choosing to have children and do a good job of prenatal checkups.