Perineal pseudophallus unmasked: a rare case report of lipomatous hamartoma mimicking an accessory penis in an infant

Background: Rare developmental anomalies, distinct from the primary genitalia, can present as phallic-appearing outgrowths in the perineal region. Case Report: We report the case of a male infant with a perianal outgrowth resembling an accessory penis, about 3.5 cm long and 1 cm in diameter, phallic-like structure, which underwent surgical excision. Histological examination revealed mature adipose tissue (shaft region), admixed with smooth muscle bundles (Desmin-positive), nerve fibers (S100-positive), and blood vessels (CD34-positive) (glans region). Discussion: This case contributes to the limited existing literature by providing comprehensive clinical, radiological, histological, and immunohistochemical correlations, thereby facilitating a deeper understanding and differentiating the lesion from true diphallia or intersex conditions. Our findings underscore the need for multidisciplinary evaluation and thorough histopathological confirmation for accurate diagnosis and management. Conclusions: This case highlights the importance of thorough clinical evaluation and histopathological correlation in distinguishing rare congenital soft tissue lesions that may mimic genital anomalies.