Congenital perineal and perianal lipoma with and without anorectal malformation. A case series of eleven patients and updated literature review

Perineal and perianal lipomas are rare congenital anomalies that can occur in isolation or in combination with ARM. Preoperative imaging, particularly high-resolution pelvic MRI, is essential for accurate diagnosis and optimal surgical planning. Surgical excision is both safe and curative, even when performed alongside corrective procedures for ARM. Perineal or perianal lipomas do not influence postoperative functional outcome; postoperative continence is primarily determined by the severity of associated anomalies, such as ARM or spinal malformations. The familial cases in our series suggest a potential genetic component, highlighting the need for further research into the underlying embryological and genetic mechanisms.