Urothelial-lined perineal masses in hypospadias: clinical and pathological insights

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Introduction: To present a case series of the proximal hypospadias associated with perineal mass, which the perineal lesions were lined by urothelium containing Von Brunn's nests. A literature review was conducted to summarize the clinical and pathological features of similar cases. Methods: Two cases of proximal hypospadias with perineal mass treated at our institute were analyzed. Clinical presentation, diagnostic evaluation, surgical management, and histopathological findings are described. A literature review was performed in PubMed with the terms "('perineal mass' OR 'perineal anomaly' OR 'perineal') AND ('hypospadia' OR 'anorectal malformations' OR 'duplication')". Results: Both patients presented were detected by physical examination. One case had a normal anus, while the other had anorectal malformations (ARMs). Both cases showed normal Karyotype (46XY). Magnetic resonance imaging (MRI) demonstrated a soft tissue lesion that has not connection with or communication with adjacent organs. Both of then underwent mass excision and urethroplasty after cystoscopy, which revealed a normal bladder and posterior urethra. Pathological result of perineal mass suggested the histological structures of urothelium with von Brunn's Nests. There were totally 8 cases of hypospadia with perineal mass reported in the literature. Reported histological findings included 3 (37.5%) colonic structure, 2 (25%) lipoma, 2 (25%) accessory scrotum with hamartom and 1 (12.5%) sacrococcygeal teratomain. Discussion: Perineal mass with proximal hypospadias is an exceptionally rare anomaly. The histopathological founding of perineal mass lined by urothelium with von Brunn's nests has not been previously reported.

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