Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.
Neurofibromatosis Type 1 also called Von Recklinghausen disease is one of the most common neurogenetic diseases. Rate of incidence in the world is 1/3500 [
A 44-year-old man was admitted to our institution in May 2016 complaining of suprapubic pain. He had a history of brown spots and freckles on his body since he was a child. We detected common skin nodules on his whole body, particularly on his torso in physical examination (Figure
Neurofibromas and cafe au lait spots on the skin.
Spindle cell lesion in resection specimen (H&E stain, 100x). No atypia, left inset (H&E stain, 200x). Positive expression with smooth muscle actin immunohistochemistry, right inset (100x).
Mass on the left wall of bladder and ureter dilatation. The arrow shows the dilatation of ureter.
Neurofibromatosis is a common neurogenetic disease. Neurofibromatosis was first described by Von Recklinghausen and the diagnosis requires the presence of at least two of the clinical symptoms in the Table
Neurofibromatosis Type 1 diagnostic criteria.
(1) Six or more pigmentations greater than 5 mm before puberty and greater than 15 mm after puberty (cafe au lait) |
(2) One plexiform neurofibroma or more than two neurofibromas of any type |
(3) Axillary or inguinal freckling |
(4) Optic glioma |
(5) Two or more “Lisch” nodules (iris hamartoma) |
(6) Bone lesions |
(7) Presence of at least one of these clinical findings in first-degree relatives |
Bladder leiomyoma can be diagnosed by ultrasound, tomography, and cystoscopy. Submucosal leiomyoma may be pedunculated or polypoid and cause irritative symptoms, suprapubic pain, urethral obstruction, lower urinary tract infection, and hematuria. Patients with intramural leiomyoma present with pelvic mass and obstructive symptoms are notable. Extramural leiomyoma may reach large sizes and these patients present with the symptoms according to mass compression [
Treatment of bladder leiomyoma is transurethral resection; however, large tumors can be treated with open partial cystectomy if the tumor location is appropriate. In our case, diagnosis was confirmed by ultrasound and tomography, and transurethral resection was used for the treatment.
The authors declare that they have no conflicts of interest.
The authors would like to thank to Samir Abdullazade for his contribution to the acquisition of pathological photo.