Linear segmental neurofibromatosis in an L5 distribution

Area of Science:

• Dermatology
• Genetics
• Neurology

Background:

• Neurofibromatosis (NF) encompasses seven subtypes, including segmental NF-1.
• Segmental NF-1 typically manifests with neurofibromas and café-au-lait macules within specific dermatomes, often on the trunk.

Observation:

• A rare case of a 36-year-old African-American female is presented.
• The patient exhibited isolated, multiple soft nodules arranged in a linear configuration.
• These nodules were located on the plantar and dorsal surfaces of her left foot.

Findings:

• This presentation represents an unusual manifestation of segmental neurofibromatosis type 1.
• The observed linear pattern of nodules is unique and previously unreported.
• The condition was specifically confined to the L5 dermatome.

Implications:

• This case expands the known clinical spectrum of segmental NF-1.
• Highlights the importance of considering rare dermatomal presentations in neurocutaneous disorders.
• Contributes to understanding the diverse phenotypic expressions of NF-1.