Segmental neurofibromatosis: a report of 3 cases

Abstract

Neurofibromatosis is a genetic disorder of neural crest-derived cells that primarily affect growth of neural tissues. It is broadly divided into three categories: (a) von Recklinghausen's neurofibromatosis or NF-1, (b) bilateral acoustic neuroma (NF-2), and (c) all other neurofibromatoses, including alternate or atypical forms of the disease. The patients with generalized form of NF1 are characterized by multiple café-au-lait spots and neurofibromas and diagnosed easily. But when an individual has small number of lesions in a limited region of the body it could be neglected by the patient or not be recognized by the clinicians as a segmental form of neurofibromatosis. We describe three cases of segmental neurofibromatosis (SNF). These cases have been classified as segmental NF according to Riccardi's definition of SNF and classification of neurofibromatosis. Segmental form of NF may evolve into a complete form over time. Also, this disorder may be transmitted to the offspring's of these individuals. Hence genetic counseling of these individuals must include these facts.

Keywords: Segmental neurofibromatosis; café-au-lait spots; neurofibroma; neurofibromatosis 1.

Figure 1

Gross photograph of a neurofibroma from case 1 showing homogeneous gray-tan cut surface

Figure 2

Photomicrograph showing wavy, buckled nuclei of Schwann cells (H and E stain, ×200)

Figure 3

Clinical photograph of a patient in case 3 showing three cafe.au.lait spots on the left side of lower back along with freckling

Figure 4

Photomicrograph of a café-au-lait spot showing increased melanin pigment in basal layer of epidermis and a underlying neurofibroma in the dermis (H and E stain, ×40)