关键词: 巨指症, 电镜, 免疫荧光

Abstract: Objective To explore the ultra-structural changes and functional protein expression of enlarged nerves in patients with type Ⅱ macrodactyly. Methods The ultra-structure of the enlarged nerves in type Ⅱ macrodactyly patients was observed under electron microscope. The expression of S100, LN and H3K27me3 were evaluated by immune-fluorescence staining. Normal digital nerves from polydactyly patients were used as control. Results The number of myelinated fibers was significantly decreased, and some myelinated lamellar structures were shrunk and destroyed. The number and morphology of Schwann cells did not change significantly. There was no significant difference in the expression of S100 between the macrodactyly group and control group. LN was low expressed in the normal digital nerve, and in the enlarged nerve samples, LN showed a stronger expression. In addition, the expression of H3K27me3 in both enlarged nerve tissue and normal nerve tissue were positive. Conclusion The neurofibromatosis of type Ⅱ macrodactyly is benign hyperplasia. In patients with type Ⅱ macrodactyly, the sheath of the enlarged nerves was damaged. However, LN positive staining indicates a repair mechanism to compensate for nerve injury. Therefore, the neurosurgical procedures should be determined according to the neurological damage and compensatory situation in patients in typeⅡmacrodactyly.

Key words: Macrodactyly, Electron microscopy, Immunofluorescence