NEUROFIBROMATOSIS TYPE 1 (NF1) AND NEUROFIBROMAS OF THE EXTERNAL GENITALIA: PRESENTATION IN 3 PATIENTS

Objectives: NF1 associated with neurofibroma in the external genitalia (penis, vaginal lips, clitoris and vagina) is uncommon and descriptions of patients are extremely rare.

Methods: Three NF1 patients, a 3-year-old boy, and two girls, ages 1 year and 8 years, respectively, were referred because of overgrowth of the external genitalia. All three were studied with MR of the lumbosacrococcyx and pelvic regions.

Results: The boy, who had asymmetric penis with overgrowth of the left half, showed at MR study a plexiform neurofibroma originating in the left lumbar nerves and extendeding through the pelvis to the left scrotum and left half penis, affecting the left ureter and bladder wall. A 1-year-old girl showed a markedly hypertrophied clitoris that resembled a penis (hermaphroditism was discarded) showed, in the MR, a plexiform neurofibroma which extended between the sacral region and the clitoris causing the hypertrophy that was demonstrated after surgical resection. The third patient, an-8-year-old girl, showed a plexiform neurofibroma of the right labium majus that was removed surgically.

Conclusion: Overgrowth of the external genitalia may be caused by neurofibromas and this requires not only endocrinological study, but also neurological and neuroradiological studies. Surgical removal may be necessary in some cases.