”Neurofibromatosis type I is a relatively common neurocutaneous syndrome that presents with various injuries to the skin, soft tissues, bones, nervous system and endocrine system, and is therefore also known as peripheral neurofibromatosis. It is a benign tumor originating from the axonal sheath of nerve Shewan cells and the inner and outer bundle of nerve membrane cells. It is autosomal dominant, 50% of the cases have genetic evidence, 50% of the cases are new mutation patients, 68% of maternal inheritance, 11% of paternal inheritance, and the incidence rate is about 1 /3000.
I. Clinical features
Characteristics of skin lesions.
1, coffee-milk discoloration of the skin.
2.Multiple neurofibromas.
3, axillary freckles.
4, iris malformation tumor.
The above four skin changes are the four main clinical manifestations of the disease.
Milk-coffee spots often appear within the first year of life and are the most common (about 99% of patients will have them) and earliest manifestation of the disease (40%-50% of patients are present at birth), as brown or milk-coffee colored rashes of various sizes. Because of the light color at birth, they often go unnoticed. Milk coffee spots become larger and more numerous with age.
Cutaneous nerve tumors, multiple cutaneous neurofibromas or fibrous tumors, occurring in the skin and subcutaneous areas, can appear in childhood and develop significantly after adolescence. Most of these tumors are located on the trunk, extremities and face. They are nodular in shape, with or without a tip, with a smooth surface and usually without pain or pressure.
Other systemic manifestations: It can be complicated by bone and joint deformities, subcutaneous nodules, neurological and visceral tumors, mental retardation, giant cranium and endocrine system disorders, which may vary from patient to patient and from family to family. Among them, the characteristic skeletal damage is a serious and common systemic manifestation of NFⅠ, and its incidence is about 50%, which can lead to serious clinical consequences and is difficult to treat.
Clinical treatment
The treatment of this disease is mainly symptomatic treatment, resection of tumor, surgical shaping. With the deeper understanding of the disease, we began to establish early intervention treatment in childhood, avoiding the traditional treatment mode of allowing the lesion to develop and then plasticizing it in adulthood.
1. Treatment of pediatric patients: Conservative treatment is used. Regular review, application of drugs, and instrumentation are required. Effective intervention during childhood can stop the further development of the tumor and reduce the degree of development of facial deformity. The majority of clinicians still believe that there is no good treatment for this disease, and if they do not give early treatment and allow it to develop, then it will eventually reach a point where it is difficult to treat.
After recent years of clinical observation, the early intervention treatment we administered has achieved relatively good clinical results, effectively inhibiting the further development of the tumor and laying a good foundation for the later plastic surgery treatment.
2, adult treatment: complete and complete removal of the tumor is the key to good results. Neurofibromatosis is often multiple, involving a wide range, according to the specific circumstances of the surgical plan. For those who have an obstructive effect on appearance or function, especially in the head and face, partial or complete excision of the tumor can be performed followed by local plastic surgery. If the tumor is huge and there is no sign of malignancy, palliative resection can be performed; if malignancy is suspected, extensive enlargement should be performed. Neurofibroma tumor tissue is fragile, and there are often many blood vessels growing in the tumor body, the lumen wall is thin and inflexible, so it is difficult to stop bleeding during surgery. Intraoperative bleeding is difficult to control, which seriously affects the resection rate and safety of surgery. For this reason, a detailed examination is necessary before surgery.
Plastic treatment
The basic requirement for plastic treatment is to remove the tumor and not to have obvious scars on the face.
The plastic treatment of neurofibroma requires a step-by-step and planned treatment. The ultimate goal is to restore bilateral symmetry of the face as much as possible, so that the tumor tissue is relatively stable and no longer grows. In our clinical practice, the treatment of neurofibroma includes early intervention treatment, i.e., effective control of tumor growth starting in childhood so that the tumor tissue does not overgrow and cause greater deformity; the previous concept of treatment, i.e., waiting until the child is older, has been changed.
In addition, for the lack of normal fascial tissue in the deep layer of neurofibroma, which makes suspension difficult, we have adopted a special method for suspension to prevent the affected side from sagging too much.