[Localized bilateral and symmetrical neurofibromatosis]

Area of Science:

• Dermatology
• Genetics
• Pathology

Background:

• Neurofibromatosis is a genetic disorder characterized by the growth of tumors on nerve sheaths.
• While typically presenting with widespread manifestations, localized forms can occur.

Observation:

• A 36-year-old woman developed approximately 20 nodular lesions on the plantar and lateral aspects of both feet after age 30.
• Histological examination confirmed the presence of neurofibromas.
• Clinical and laboratory findings excluded von Recklinghausen disease (NF1).

Findings:

• The case represents a rare instance of distal, bilateral neurofibromatosis.
• The patient's presentation was classified as a sporadic, bilateral form of Type V neurofibromatosis according to the Riccardi classification.
• This classification aids in genetic counseling for similar rare presentations.

Implications:

• This case expands the understanding of neurofibromatosis phenotypic diversity.
• It highlights the importance of accurate classification for genetic counseling, even in rare, sporadic forms.
• Further research into localized neurofibromatosis subtypes may be warranted.