NEUROCUTANEOUS MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE- 1: ROLE OF MULTIMODALITY IMAGING

Dr. Harmeet Kaur, Dr. Punit

Abstract


Neurofibromatosis type-1 or Von Recklinghausen disease is a multisystem neurocutaneous disorder and the most common phakomatosis. One of the main characteristics of this disease is systemic and progressive involvement with impaired neurological functions. It is characterised by predominantly neurocutaneous features such as cafe-au-lait spots, axillary freckling, skeletal dysplasias, benign and malignant neurofibromas. We report a case of a 15-yr-old male patient who presented with multiple nodular lesions on both upper limbs and lower limbs, associated with sensory and motor weakness. Imaging findings revealed multiple cutaneous and subcutaneous neurofibromas involving peripheral and autonomic nerves presenting as soft tissue skin nodules clinically. We discuss the multimodality imaging findings of neurofibromatosis-1 in the present article and brief review of the available literature.


Keywords


Neurofibromatosis type-1; neurofibroma; neurocutaneous manifestations; radiology.

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References


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ABBREVIATIONS

NF – Neurofibromatosis

ENT – Ear Nose Throat

USG – Ultrasonography

NCCT – Non Contrast Computed Tomography

MRI – Magnetic Resonance Imaging

T1W – T1 Weighted

NIH – National Institutes of Health

NSTs – Nerve Sheath Tumours

CNS – Central Nervous System

UBOs – Unidentified Bright Objects

CT – Computed Tomography


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