An unusual manifestation of neurofibromatosis – A case report of a vulval mass

Abstract

Neurofibromatosis (NF) of the female genitalia is an uncommon manifestation. Selective involvement of the labium majus is quite rare. We describe a rare manifestation of a vulval plexiform neurofibroma without clitoral involvement in a post-pubertal girl. The patient had multiple café-au-lait spots over the neck, back, buttocks and thighs, a patch of pigmentation over the pelvis and inguinal region, axillary freckling, and a large hanging left vulval mass. On ultrasound, it showed hypoechoic nodules on a hyperechoic background with significant vascularity. Magnetic resonance imaging revealed T1-weighted (T1W) hypointense and T2-weighted (T2W) hyperintense, diffuse infiltrating lesion with few T2W hyperintense tubular and nodular areas, presence of “target sign,” and intense post-contrast enhancement. A biopsy confirmed it to be neurofibroma. The patient was diagnosed with NF type 1 and underwent surgical resection.