Patient's question:
Child's body has been a bit off recentlyDoctor's answer:
Childhood neurofibromatosis has a variety of symptoms. All symptoms of this disease have been collected, hoping to be helpful to you:Neurofibromatosis is a benign tumor of nerve sheath hyperplasia, a hereditary systemic neuroectodermal abnormality, belonging to autosomal dominant inheritance, but the penetrance is inconsistent. It is divided into solitary and multiple forms, the latter is also known as neurofibromatosis. The tumors are clustered and distributed, in addition to subcutaneous tissue, they can also invade bones, central nervous system, blood vessels, and internal organs, thus producing various systemic symptoms and even endangering life. 10~20% may develop malignancy.
The characteristics of this disease are as follows:
1. Skin changes: Café-au-lait spots are an important sign of this disease. About 40%~50% of patients have them at birth, and they gradually increase in size, color, and number with age, being more common in non-exposed areas. These spots can be seen at birth, appearing as light brown (coffee with milk) spots of varying sizes and shapes, not elevated above the skin, without scaling, and without abnormal sensation, except for the palms, soles, and scalp. Other parts of the body can be affected. Normal children may sometimes have 1–2 café-au-lait spots, which have no diagnostic significance, while 6 or more spots with a diameter greater than 5mm have diagnostic value. Sometimes, 1–3mm diameter light brown spots similar to freckles are seen in the axilla or groin or other parts of the trunk, called axillary freckles, which are clustered and often numerous, also having diagnostic significance.
2. Neurofibromas: They are often not obvious in infancy but increase after puberty, appearing as nodular elevations, sometimes pedunculated, with the same color as the skin or dark red, ranging in size from several millimeters to several centimeters, and varying in number. They are more common on the trunk, with fewer on the limbs and head. If the tumor compresses a nerve, it can cause pain or dysfunction. Diffuse neurofibromas often affect the face and can be seen in childhood, often destroying facial appearance. Diffuse neurofibromas in the neck or mediastinum can compress the respiratory tract and affect breathing.
3. Eye abnormalities: Pigmented iris hamartomas (Lisch nodules) are commonly seen in the iris. They cannot be detected during a general physical examination and require observation under a slit lamp. They appear as raised brown patches with clear margins and no special symptoms. They are common after the age of 6 and have diagnostic significance.
4. Nervous system: Pathologically, neurofibromatosis tissue is a hamartomatous structure, a benign tumor, and can affect nerves throughout the body. Due to the different nature and location of the tumors, the clinical manifestations are diverse. Optic glioma can be seen in 15% of patients, progressive vision loss, optic atrophy, local pain, or exophthalmos, unilateral or bilateral. Acoustic neuroma often occurs after the age of 10, hearing loss, tinnitus, vertigo, and facial muscle weakness. Meningioma, astrocytoma, and ependymoma can also be seen in the brain. The spinal cord and nerve roots can also be affected. This disease can be associated with learning difficulties and behavioral disorders, but significant intellectual disability and seizures are not very common.
5. Bone lesions: Bones often show congenital bone dysplasia, thinning of the bone cortex, and incomplete calcification. Butterfly bone dysplasia, pathological fractures, and pseudarthrosis formation of the tibia are commonly seen.
【Clinical Diagnosis】
Neurofibromatosis can be divided into two types:
1. Type 1 neurofibromatosis, which has two or more of the following:
A) 6 or more café-au-lait spots, with a diameter greater than 5mm before puberty and greater than 15mm after puberty.
B) Axillary freckles.
C) Optic glioma.
D) 2 or more neurofibromas or 1 diffuse neurofibroma.
E) First-degree relatives with Type 1 neurofibromatosis.
F) 2 or more Lisch nodules.
G) Bone lesions.
2. Type 2 neurofibromatosis
A) Bilateral acoustic neuroma (requires confirmation by MRI, CT, or histology).
B) Unilateral acoustic neuroma, with Type 2 neurofibromatosis in a first-degree relative.
C) Type 2 neurofibromatosis in a first-degree relative, and the patient has any two of the following diseases: neurofibroma, brain (spinal) meningioma, schwannoma, glioma.
【Laboratory Diagnosis】
Neurofibromatosis originates from peripheral nerves and their stroma, including Schwann cells. Under an electron microscope, Schwann cell branches can be seen in the collagen stroma. In café-au-lait spots and clinically normal skin areas, large pigment granules can be seen in epidermal cells.