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Plexiform Neurofibroma of Clitoris
Dhanya Yesodharan1, Bindu Sudarsanan2, Annie Jojo3
1Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Cochin, Kerala, India.
Journal of Pediatric Genetics
|November 17, 2017
Summary
Neurofibromatosis type 1 can cause clitoral enlargement in girls. This case highlights clitoral plexiform neurofibroma as a rare cause of clitoromegaly requiring consideration in pediatric diagnosis.
Area of Science:
- Pediatric Endocrinology
- Dermatology
- Genetics
Background:
- Neurofibromatosis (NF1) is a genetic disorder.
- Genital manifestations in NF1 are uncommon.
- Clitoromegaly is the most frequent genital finding in females with NF1.
Observation:
- A 5-year-old girl presented with clitoromegaly.
- The patient was diagnosed with neurofibromatosis type 1.
- Clitoral plexiform neurofibroma was identified.
Findings:
- Surgical intervention (clitoroplasty) was performed.
- Histopathology confirmed the diagnosis of plexiform neurofibroma.
- This represents a rare presentation of NF1.
Implications:
- Plexiform neurofibroma of the clitoris should be considered in the differential diagnosis of pediatric clitoromegaly.
- Early consideration can guide appropriate diagnostic pathways.
- This finding emphasizes the importance of thorough evaluation in pediatric genital abnormalities.
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