Neurofibromatosis is a rare hereditary disease characterized by skin pigmentation spots and multiple neurofibromas. Approximately 25-50% of patients have a positive family history. Patients may develop pigmented spots on the skin shortly after birth, appearing milk-coffee bean-colored, which gradually increase or enlarge. Sometimes skin lesions appear later, manifesting only during puberty. Physiological changes such as development, pregnancy, menopause, infectious diseases, or emotional stress can worsen the condition. The disease progresses slowly, but malignant transformation may occur between the ages of 20 and 50. This condition is found worldwide, with no differences in gender, age, or race. Treatment is generally unnecessary unless it severely affects appearance and function or shows signs of malignancy, in which case surgical intervention may be considered.

bubble_chart Clinical Manifestations

1. Skin pigmentation spots: Almost all patients have skin pigmentation spots, ranging from light brown to dark brown or coffee bean-colored (café-au-lait spots), varying in size and number. Freckle-like pigmentation may appear in the armpits.
2. Multiple skin nodules: Ranging from a few to dozens or even hundreds, mainly distributed on the trunk, often protruding from the skin as hemispherical or conical, light red or purplish-red, varying in size, and soft to the touch like a hernia.
3. Oral lesions: Manifest as papillomas or unilateral macroglossia.
4. Visceral damage: Due to intracranial tumors, vascular malformations, or skeletal deformities, neurological symptoms such as intellectual decline and epilepsy may occur. Tumor invasion into bones can cause scoliosis, gastrointestinal involvement may lead to bleeding or obstruction, and endocrine abnormalities may also arise.

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bubble_chart Diagnosis

1. Milk coffee bean spots exceeding 6 in number (each with a diameter >1.5cm) and/or the presence of axillary freckles;
2. Multiple soft-textured skin nodules, resembling hernias;
3. Oral and visceral lesions;
4. Histopathology: The tumor is well-defined but lacks a capsule, composed of Schwann cells and nerve membrane fibers, with positive pudding staining.

bubble_chart Treatment Measures

Principles of Treatment

1. Symptomatic Treatment: Such as antiepileptics and analgesics;
2. Surgical Treatment: Suitable for cases where skin lesions severely affect appearance, or tumors are too large and impair function, or there is pain with suspected malignancy. Neurosurgical intervention may be necessary to remove the source of pain when required.

Principles of Medication

1. If the patient experiences epileptic seizures, 1-2 types of antiepileptic drugs may be selected;
2. For tumor-induced compressive pain, surgical removal is preferred, with analgesics serving only as a temporary measure.

bubble_chart Cure Criteria

1. Cure: After surgical treatment, the tumor is removed, with satisfactory cosmetic results, or normal function of the compressed organ or disappearance of epilepsy;
2. Improvement: After surgical treatment, partial cosmetic satisfaction, partial recovery of compressed organ function, and significant improvement in epilepsy symptoms.
3. No cure: Both surgical treatment and anti-epileptic treatment are ineffective.