Neurofibromatosis type 1 with external genitalia involvement. Presentation of 4 patients

Ignacio Pascual-Castroviejo, Pedro Lopez-Pereira, Salvatore Savasta, Juan Carlos Lopez-Gutierrez, Carlos Míguelez Lago, Mariangela Cisternino

Research output: Contribution to journalArticlepeer-review


Genitourinary neurofibromas with clitoral involvement in neurofibromatosis type 1 are rare, and even more infrequent are the neurofibromas involving genitalia in males. The most frequent presenting sign of neurofibroma in females is clitoromegaly with pseudopenis, and enlarged penis is the most common sign in males. Labium majus neurofibroma not associated with clitoral involvement is extremely rare. Magnetic resonance imaging demonstration of the neurofibromas has seldom been reported. We report 4 children, 3 girls and 1 boy, with plexiform neurofibromas involving the external genitalia. Three of the 4 patients had histologic confirmation of neurofibroma. Two girls with clitoral hypertrophy had a neurofibroma that infiltrated the clitoris and extended unilaterally to the lower bladder wall. One girl had a plexiform neurofibroma that affected a labium. One boy with asymmetric penile hypertrophy since 2 years of age and ipsilateral gluteal hypertrophy had plexiform neurofibromas that extended between the left lumbogluteal and penile regions, infiltrating the left rectum wall and bladder with compression of both structures, the left prostate, and the left half of the cavernous corpi with hypertrophy of this part and asymmetry of the penis. Magnetic resonance imaging demonstrated in all patients that external genitalia and plexiform neurofibroma formed images of nondetachable structures. However, hermaphroditism was discarded by chromosomal study in all 3 girls before ratifying the diagnosis of external genitalia neurofibroma.

Original languageEnglish
Pages (from-to)1998-2003
Number of pages6
JournalJournal of Pediatric Surgery
Issue number11
Publication statusPublished - Nov 2008


  • Bladder neurofibroma
  • Clitoromegaly
  • Labia majora neurofibroma
  • Neurofibromatosis type 1 (NF1)
  • Penile neurofibroma
  • Plexiform neurofibroma
  • Pseudohermaphroditism

ASJC Scopus subject areas

  • Surgery
  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'Neurofibromatosis type 1 with external genitalia involvement. Presentation of 4 patients'. Together they form a unique fingerprint.

Cite this