Neurofibromatosis type-1: A Narrative Review on Epidemiology, Clinical Manifestations and Management
Author(s):
Manthan Prajapati, Kenil Choksi, Madhav Oza, Jaydev Patel, Mansi Bhagat
Keywords:
Neurofibromatosis type-1, neurogenetic disorder, rare disease, Cutaneous manifestations
Abstract
One in 2,500 persons worldwide have neurofibromatosis type 1 (NF1), a prevalent neurogenetic condition. There is a 50% chance of passing it on to their offspring because it is an autosomal dominant disorder. Café-au-lait macules, neurofibromas or plexiform neurofibroma, skinfold freckling, an optic pathway tumour, two or more iris hamartomas, a distinctive bone lesion, or a first-degree relative with NF1 are required for the diagnosis of NF1. Café-au-lait spots, freckled skin folds, generalised hyperpigmentation, blue-red and pseudoatrophic macules, plexiform neurofibroma, juvenile xanthogranuloma, glomus tumour, melanoma, nevus anemicus, and pruritus are examples of cutaneous manifestations of NF1. Learning difficulties and attention deficit hyperactivity disorder (ADHD) are among the NF1 non-cutaneous manifestations, as are orthopaedic, neurologic/psychiatric, ophthalmologic, and other conditions. Treatment options for NF1 include genetic counselling, referrals to other experts, and therapies like speech, occupational, or physical therapy. To create new treatments for NF1, ongoing research is being done.
Article Details
Unique Paper ID: 157908

Publication Volume & Issue: Volume 9, Issue 8

Page(s): 242 - 245
Article Preview & Download


Share This Article

Conference Alert

NCSST-2021

AICTE Sponsored National Conference on Smart Systems and Technologies

Last Date: 25th November 2021

SWEC- Management

LATEST INNOVATION’S AND FUTURE TRENDS IN MANAGEMENT

Last Date: 7th November 2021

Latest Publication

Go To Issue



Call For Paper

Volume 9 Issue 10

Last Date for paper submitting for March Issue is 25 March 2023

About Us

IJIRT.org enables door in research by providing high quality research articles in open access market.

Send us any query related to your research on editor@ijirt.org

Social Media

Google Verified Reviews

Contact Details

Telephone:6351679790
Email: editor@ijirt.org
Website: ijirt.org

Policies

Important Links

Browse Rsearch papers