Six Cases of Perineal Groove Concomitant With Low-Type Anorectal Malformations

Abstract

Purpose: A perineal groove is characterized by a wet sulcus with the mucous membrane extending from the posterior vestibule to the anterior border of the anus. Stephens classified perineal groove as a rare anorectal malformation occurring embryologically only in females. However, cases that do not match Stephens’ classification have been reported, such as partial-type cases and cases in males. We herein report six cases of perineal groove concomitant with low-type anorectal malformations.

Methods: We retrospectively analyzed the medical records of 175 patients with anorectal malformations.

Results: Perineal groove was diagnosed in seven patients (all females). Six patients showed anterior displacement of the anus, fistula-like appearance of the anus, and displacement of the anus from the distribution of the external sphincter, and they were diagnosed as having a perineal groove with low-type anorectal malformation and underwent concomitant mucosal resection and anorectoplasty.

Conclusions: On the basis of recent accumulated reports and embryological investigation, we emphasize that examination of a perineal groove should include a careful evaluation of the anal appearance and position. In patients with a perineal groove concomitant with low-type anorectal malformations, treatment should be based on the optimal therapeutic strategy used for low-type anorectal malformations. However, patients without anal position anomalies can be managed with conservative treatment for a while. Surgical treatment is considered in patients in whom epithelization is unlikely to occur. Further accumulation of cases is essential to determine the indication and appropriate timing of surgery in these patients.