Pigmented spots can appear on the skin of patients shortly after birth, which are milky brown and gradually increase or expand. Sometimes skin lesions appear later, and the disease begins at the developmental stage. Physiological changes such as development, pregnancy, menopause, infectious diseases and mental stimulation can aggravate the condition. The course of disease is slow, but malignant transformation can occur at the age of 20-50. This disease is found all over the world, regardless of gender, age and race. Symptoms The symptoms are 1. Almost all patients have skin pigment spots; 2. Multiple skin nodules; 3. Impairment of oral control: papilloma or unilateral giant tongue; 4. Visceral damage: Due to intracranial tumors, vascular malformations or skeletal malformations, mental retardation, epilepsy and other neurological symptoms can be caused. The principle of treatment generally does not require treatment, unless it seriously affects the appearance and function or has malignant transformation, surgical treatment is considered. 1. Symptomatic treatment: such as antiepileptic and analgesic; 2. Surgical treatment: suitable for skin lesions that seriously hinder beauty, or too many tumors affect function, or there is pain and suspected malignancy. If necessary, perform neurosurgery to eliminate the source of pain. Disease Description Neurofibromatosis is an autosomal dominant genetic disease, which is a multi-system damage caused by abnormal development of neural crest cells due to gene defects. According to clinical manifestations and gene location, neurofibromatosis can be divided into type ⅰ (NFI) and type ⅱ (NFⅱ). NF I was first described by von recklinghausen (1982). Its main characteristics are coffee spots on the skin and multiple neurofibromas on the peripheral nerves, with high penetrance. The gene is located on chromosome 17q 1 1.2. The prevalence rate was 3/65438+ 10,000; NFⅱ, also known as central neurofibroma or bilateral acoustic neuroma, is located on chromosome 22q. Symptoms and signs 1, skin symptoms: ① almost all cases have milk coffee spots on their skin at birth, with different shapes and sizes, uneven edges and no prominent skin surface, which often occur in unexposed parts of the trunk; There are more than 6 milk coffee spots before puberty (> > after puberty 15mm), which has high diagnostic value, and freckles on the whole body and armpits are also one of the characteristics. ② The large and black pigmentation indicates tufted neurofibroma, and the midline indicates spinal cord tumor; (3) Dermatofibroma and fibrochondroma are common in childhood, mainly distributed in trunk and facial skin, but also in limbs. Mostly pink, the number is uncertain, ranging from thousands to sizes, mostly sesame seeds, mung beans to oranges, soft; Soft tumor is fixed or pedicled, soft and elastic to the touch; Neurofibromas of superficial epidermal nerves are beaded nodules, which can move and cause pain, tenderness, radiation pain or paresthesia. Plexus neurofibroma is a diffuse neurofibroma of nerve trunk and its branches, which is often accompanied by a large number of hyperplasia of skin and subcutaneous tissue, causing diffuse hypertrophy in this area or limb, and is called neurofibromatosis elephantiasis. 2. Nervous system symptoms: About 50% patients have nervous system symptoms, mainly caused by peripheral nerve tumor compression, followed by glial cell proliferation, vascular proliferation and skeletal malformation. ① Intracranial tumor: acoustic neuroma is the most common, and bilateral neuroma is the main feature of NFⅱ, which is often combined with meningioma, multiple meningiomas, glioma, ependymoma of ventricle, meningocele and hydrocephalus, neurilemmoma of spinal nerve posterior root, etc. Optic nerve, trigeminal nerve and posterior cranial nerve can all occur, and in a few cases, mental retardation, memory disorder and seizures can occur. ② Intraspinal tumor: Single or multiple neurofibromas and meningiomas can occur in any plane of spinal cord, which may be combined with spinal deformity, spinal cord swelling and syringomyelia; ③ Peripheral nerve tumor: Peripheral nerve can be involved, and ponytail is common. Tumors are distributed in a beaded shape along the nerve trunk, and generally have no obvious symptoms, such as sudden growth or severe pain, which may be malignant. 3. Eye symptoms: Fibrochondroma or plexiform neurofibroma can be seen in the upper eyelid, orbital masses and exophthalmos can be palpable, and small orange round nodules of iris can be seen under slit lamp, which are hamartomas, also known as Lisch nodules, and can increase with age. This is a unique performance of NFI. Gray-white tumor can be seen in the fundus, and the optic papilla is raised; Optic glioma can cause exophthalmos and decreased vision. 4. Common congenital bone dysplasia includes scoliosis, protrusion and kyphosis, skull asymmetry, defect and depression. Direct compression of tumor can lead to bone changes, such as internal auditory canal enlargement caused by acoustic neuroma, intervertebral enlargement and bone destruction caused by spinal neuroma; Excessive growth of long bones, facial bones and sternum, hyperosteogeny of long bones, bending of diaphysis and pseudarthrosis are also common. Tumors can occur in adrenal gland, heart, lung, digestive tract and mediastinum. The NFI genome spans 350Kb, and the cDNA is 1 1Kb, which contains 59 dominant amino acids and encodes 28 18 amino acids, forming a 32kD neurocellulose protein distributed in neurons. NFI gene is a tumor suppressor gene. When translocation, deletion, rearrangement or point mutation occurs, the tumor inhibitory function loses and causes disease. Deletion mutation of NF Ⅱ gene leads to Schwann cell tumor and meningioma. The main pathophysiological characteristics are abnormal development, excessive proliferation and tumor formation of ectodermal nerve tissue. NFI neurofibroma is common in peripheral nerves, spinal nerve roots, especially cauda equina. Cranial nerves are more common in auditory nerve, optic nerve and trigeminal nerve. Intraspinal tumors include ependymoma and astrocytoma. The most common intracranial tumor is glioma. Tumors vary in size, with spindle cells and palisade nuclei.