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The congenital perineal groove: Defective recognition of a dermal defect

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By Warren R. Heymann, MD
Feb. 28, 2018

It has been nearly half a century since Stephens first detailed the perineal groove (PG) as a congenital malformation consisting of three features: (1) a wet groove in the midperineum between the fourchette and the anus; (2) normal formation of the vestibule including the urethra and vagina; and (3) hypertrophy of the tissue skirting the perineum and coursing posteriorly to join at the anus or surround it. (1)

I was unaware of this anomaly until I read the article by Garcia-Palacios et al — a retrospective review of their 5 patients (all girls) with a PG observed in their clinic during 2015-16. The mean age was 14 months. None had symptoms, and no treatment was required. During follow-up of 1 year, all remained asymptomatic. Only 1 of the 5 had associated anomalies (with features of PELVIS syndrome). (2)

Of the approximately 25 cases of PG in the literature, only 1 case has been reported in a male patient. While the exact pathogenesis of PG is unknown, the anomaly may result from faulty development of the embryonic cloaca, the perineal raphe’s failure to fuse, or a defect in the development of the uroanal septum. (3) Although not usually biopsied, the histologic features may vary from a nonkeratinized stratified squamous epithelium to a simple columnar, stratified columnar, or cuboidal epithelium of rectal type mucosa, with intervening areas of nonkeratinized stratified squamous epithelium. This is reminiscent of the anorectal transitional zone epithelium, implying that this malformation is probably associated with an embryological defect during urorectal septum development. (4)

Occasionally a mucous discharge is noted. Rare complications such as constipation, urinary tract infection, and skin infection have been reported. (2)

The diagnosis is usually made clinically, with biopsies rarely performed. Imaging for associated regional anomalies may be considered, although such anomalies are believed to be rare.

Treatment is usually not necessary. If surgical repair is pursued, it is recommended only after the age of 2 years, when the potential for self-healing has passed. (3) There are some reports advocating surgical correction earlier than the age of 2 years for repeated inflammation or infection of the nonepithelialized area from exposure to mucous drainage, wet secretion from the urethra, vagina, or anal sites. (4) Esposito et al recommend covering the sutures with a chemical glue to impermeabilize the suture line, thereby protecting the skin from infections and/or wound dehiscence. (5)

The most essential component in managing PG is simply recognizing it! If unaware of the diagnosis, it could be misdiagnosed as an ulcerated hemangioma, irritant dermatitis, infection, lichen sclerosis, perianal pyramidal protrusion, trauma, or sexual abuse. (3) Recognition of this entity should prevent unnecessary evaluations, surgery, and parental angst.

1. Stephens FD. The female anus, perineum and vestibule. Embryogenesis and deformities. Aust N Z J Obstet Gynaecol 1968; 8: 55-73.
2. Garcia-Palacios M, et al. Perineal groove in female infants: A case series and literature review. Pediatr Dermatol 2017; 34: 677-80.
3. Diaz L, et al. Perineal groove: A report of 2 cases. JAMA Dermatol 2014: 150: 101-2.
4. Harsano M, et al. Perineal groove: A rare congenital midline defect of perineum. AJP Rep 2016; 6: e30-2.
5. Esposito C, et al. Current trends in the management of pediatric patients with perineal groove. J Pediatr Adolesc Gynecol 2011; 24: 263-5.

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