Diffuse Neurofibromas: Clinicopathologic Analysis of 11 cases

ABSTRACT

We reviewed surgical specimens from 11 patients with diffuse neurofibroma to define the specific clinicopathologic characteristics. Ten cases were cutaneous neurofibromas and one case was an uncommon gastrointestinal neurofibroma involving the rectum. The most frequent sites of involvement were the head and neck, especially the eyelids and the periorbital areas. They usually presented as a plaque-like elevation of the skin. They primarily occured in children and young adults and positive family histories of von Recklinghausen's neurofibromatosis were obtained in 45.4%. Pathologically, the involved skin & rectum were diffusely thickened by an infiltrative growing mass, showing proliferation of short fusiform cells in the uniform matrix of fine fibrillary collagen. The characteristic prominence of Wagner-Meissner bodies (45.4%) suggests they could be associated with pathogenesis of diffuse neurofibroma. On the basis of these findings, we could confirm diffuse neurofibroma to be a distinct form of neurofibroma.