Segmental neurofibromatosis: a report of 3 cases.

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.

Morphological spectrum of peripheral nerve sheath tumors: a series of 126 cases.

By convention, soft tissue tumors include the peripheral nerve sheath tumor (PNST) although they arise from neuroectoderm. PNSTs display a wide spectrum of morphology and biological behavior. Malignant transformation in benign tumors, especially neurofibroma, is an acknowledged phenomenon.This article describes clinico-pathological features of 126 PNSTs with their morphological variants and those associated with neurofibromatosis 1 (NF1) encountered in a single center over a 6-year period. Benign PNSTs were more common [118 (93.65%)] when compared with their malignant counterparts [8 (6.34%)]. Histological variants including plexiform schwannomas and diffuse, plexiform and pigmented forms of neurofibromas, though rare, were observed. Eleven (8.73%) patients with NF1 showed a strong association with plexiform neurofibroma. A malignant transformation in pre-existing neurofibroma was seen in 1 patient with NF1. This series highlights the clinico-pathological spectrum of PNSTs, their morphological variants and the incidence of associated NF1. The importance of detecting plexiform variants lies in their vastly different prognostic implications particularly when occurring in the setting of NF1.

Pentalogy of Fallot and cardiac paraganglioma: a case report.

Primary cardiac tumors are rare. Of these the majorities are benign and about 75% are atrial myxomas. One of the rarest tumors affecting the heart is a cardiac paraganglioma. We report an unusual case of a left ventricular paraganglioma discovered during autopsy in a 22-year female patient, a case of sudden death. This patient also had coexistent Pentalogy of Fallots along with transposition of pulmonary trunk to the left ventricle, a very rare congenital cyanotic heart disease. Chronic hypoxia due to congenital cyanotic heart disease is supposed to be the cause of development of paraganglioma in heart in these patients.