| Neurofibroma is a common benign tumor in clinic , neurofibromatosis is a complex disorder involved multiple systems instead. There are many overlaps between them in clinic, but their etiology, pathology, treatment and prognosis are different . It's very important for clinicians and patients to recognize these diseases (especially later) and to improve their level of early diagnosis and therapy at last.Neurofibroma refers to a kind of benign hyperplasia disease which arises from epineurium of peripheral nerve system. It is usually be named as neurofibromatosis when there are multiple tumors in the body or accompanied with other systematic diseases. By reviewing a lot of references the author made a brief summary to neurofibroma in this article from clinic manifestation, pathologic features, diagnosis and therapy, and discussed neurofibromatosis in detail including the history, pathogenesis, clinic signs, pathologic characteristics, types, diagnostic criterion, imaging diagnosis, newest developments in molecular biochemistry, pathogenesis and genetic treatment.The lesions or tumors of neurofibromatosis is almost the same as solitary neurofibroma whether in site of occurrence, morphology or pathology of the lesion, but the latter always presents as solitary and dermal lesion, the former often multi-occurs and involves extensively and seriously instead, usually accompanied with other typical signs or systematic lesions. Solitary neurofibroma is generally asymptomatic, grows slowly, only increases faster in special period. Operation is usually needed and some of the patients can be cured. The nodus and hotpoints of research are focus on neurofibromatosis now.Neurofibromatosis is an autosomal dominant genetic disease, which also named as Von Recklinghausen disease before. Two types were suggested by NIH of USA in 1987, namely the peripheral type (NF1) and central type (NF2), presenting different mutating gene and clinical characteristics respectively. Von Recklinghausen disease just means NF1 and NF2 mainly indicates neurofibroma in encephalic instead.The incidence of NF1 in clinic is 1/2500- l/3000.There are no differences between nations and sex. Gene of NF1 sites in 17qll.2 and encodes neurofibomin which can make ras inactive resulting in preventing the proliferation of epineurium which will grow overly and persistently if there is no negative regulating of neurofibromin, when the patient lost the gene's function due to mutation or other changes, and typical symptoms will appear eventually which shows as multi-nodules in the area of peripheral nerves. Every part of human body could be involved and more common in skin or subcutaneous. Under microscope the nodule is found basically composed of Schwann cells, fibroblasts, mast cells et al, and Schwann cells account for the most. There are many mucosubstances in the matrix. Another two featured signs of NF1 are caf -au-lait and iris Lisch nodules. All most all of the patients of NF1 will present these three signs at certain ages. Other complications are seldom but show diversity. The diagnostic criterion suggested by NIH in1987 is applied in clinic practice at present. The rapid developing medical imaging provides helps greatly to diagnosis and treatment of these two diseases. Therapy still focuses on the treatments to those complications, and surgery have to be considered if the tumors are obvious or have changes of malignant. Some biologic-based therapies and genome medicines are still at their stage of test. NF2 is seldom compared with NF1 in clinic, the incidence of it is about 1/50000, which mainly demonstrates as dual acoustic neuroma and may accompany with other central nerve tumors. Peripheral neurofibroma and cafe-au-lait are seldom at the same time. NF2 gene localizes in 22q and encodes merlin which function is still in research. Many studies show that it has function of negative regulating. NF1 and NF2 all belong to genetic disease and gene therapy must be the best method to treat them. Gene therapy to NF2 has had some development in the research... |
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