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Diffuse neurofibroma with hypertrichosis in a toddler.

Robert P Bower¹, Paul Leiphart², Thomas Samson^3,4

¹Pennsylvania State College of Medicine, Hershey, Pennsylvania, USA.

Pediatric Dermatology

|March 9, 2024

Summary

Diffuse neurofibroma is a rare scalp tumor in infants. This case highlights a 17-month-old boy with this condition and hypertrichosis, despite negative neurofibromatosis testing.

Keywords:

dermatopathology hypertrichosis neurofibroma neurofibromatosis

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Area of Science:

Pediatric Oncology
Dermatology
Clinical Genetics

Background:

Diffuse neurofibroma is a rare, slow-growing peripheral nerve sheath tumor.
While neurofibromas are associated with neurofibromatosis, diffuse variants are uncommon, especially in infants.

Observation:

A case report of a 17-month-old boy presenting with diffuse neurofibroma of the scalp.
The patient also exhibited hypertrichosis (excessive hair growth) in the affected area.

Findings:

The diffuse neurofibroma of the scalp was confirmed clinically and histopathologically.
Genetic and clinical evaluations for neurofibromatosis (NF1) were negative in this patient.

Implications:

This case expands the understanding of rare pediatric scalp tumors.
It underscores the importance of considering diffuse neurofibroma in infants with scalp masses, even without typical neurofibromatosis features.
Further research may clarify the specific genetic underpinnings of non-NF1 associated diffuse neurofibromas.