Neurofibroma: Case Series with Clinical Features and Recommendations.

Area of Science:

• Medical Genetics
• Dermatology
• Ophthalmology

Background:

• Neurofibroma is an autosomal benign disorder with localized, diffuse, or invasive forms.
• Plexiform neurofibroma, a destructive variant, often affects orbital/periorbital regions and can be linked to autosomal dominant diseases.
• Clinical diagnosis of neurofibromatosis (NF) relies on National Institutes of Health (NIH) criteria, including features like Lisch nodules and cafe-au-lait spots.

Purpose of the Study:

• To present the clinical features of eight neurofibroma cases from Civil Hospital, Karachi.
• To highlight the common presentation of periorbital swelling and overhanging skin masses.
• To discuss diagnostic challenges and surgical considerations for disfiguring neurofibromas.

Main Methods:

• Retrospective case series analysis of eight patients with neurofibroma.
• Clinical examination focusing on facial and ocular manifestations.
• Review of diagnostic signs including Lisch nodules, cafe-au-lait spots, and ptosis.

Main Results:

• Eight patients presented with overhanging skin masses, primarily in the orbital/periorbital region, impacting daily activities.
• Common signs included multiple facial and body nodules, cafe-au-lait spots, and Lisch nodules.
• Associated signs like ptosis, pterygium, and telecanthus were noted, requiring further evaluation for NF correlation.

Conclusions:

• Neurofibroma frequently manifests as ocular or facial swelling, posing significant cosmetic and functional challenges.
• Early and accurate diagnosis is crucial due to the varied presentations of neurofibroma.
• Surgical management of extensive neurofibromas presents challenges for plastic surgeons aiming for optimal aesthetic and functional outcomes.