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
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