International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064

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Case Studies | Dermatology | India | Volume 12 Issue 12, December 2023 | Rating: 4.4 / 10

Exploring Segmental Neurofibromatosis: Case Studies and Genetic Implications

Ankur Anil Bagde | Vaibhav Arjun Mali

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 caf? - 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.2 Also, this disorder may be transmitted to the offspring of these individuals. Hence genetic counselling of these individuals must include these facts.

Keywords: Segmental neurofibromatosis, neurofibromatosis 1, cafe - au - lait spots, neurofibroma

Edition: Volume 12 Issue 12, December 2023,

Pages: 1631 - 1633

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