What are the six major symptoms of neurofibromatosis?

Generally speaking, there is no established concept of "the six major symptoms of neurofibromatosis." As a tumor associated with an autosomal dominant genetic disorder, neurofibromatosis commonly presents with symptoms including café-au-lait skin spots, cutaneous neurofibromas, nerve compression symptoms, skeletal abnormalities, and hearing loss. The specific manifestations are as follows:

1. Café-au-lait Spots: Early in the disease, patients often develop café-au-lait skin spots. These spots are typically light brown, dark brown, or tan in color, and may be round, oval, or irregular in shape with clear borders. They commonly appear on the trunk and limbs. With age, the number and size of these spots may gradually increase, and some patients may develop more than six spots.

2. Cutaneous Neurofibromas: Patients may develop multiple or solitary neurofibromas on the skin surface, presenting as soft subcutaneous masses. These tumors are typically non-tender upon palpation and movable. They are often distributed along nerves and may gradually increase in number as the disease progresses, potentially affecting the appearance of the skin.

3. Nerve Compression Symptoms: If tumors grow near nerve trunks, they may compress adjacent nerves, causing numbness, pain, or sensory loss in the corresponding areas. Compression of peripheral nerves may lead to limb weakness and impaired mobility, while compression of nerve roots may result in radiating pain along the nerve pathway, affecting the patient's normal activities and rest.

4. Skeletal Abnormalities: Some patients may experience abnormal bone development, manifesting as bone deformities, thinning, or defects. For example, spinal curvature (scoliosis), limb length discrepancies, or cranial asymmetry may occur. These abnormalities not only affect body appearance but may also impair normal bone function and increase the risk of fractures.

5. Hearing Loss: When the auditory nerve is affected by tumors, patients may experience hearing loss. Initially, this often presents as gradual unilateral hearing decline, possibly accompanied by tinnitus. Without timely intervention, hearing loss may progressively worsen, potentially leading to unilateral or bilateral deafness, which impacts auditory function and daily communication.

Patients are advised to undergo regular physical examinations and closely monitor changes in symptoms. It is important to protect the skin in daily life, avoiding friction or pressure on skin masses. Maintaining healthy lifestyle habits, including a balanced diet and regular sleep patterns, can help support overall health.