(102) Perineal Groove: A Rare Congenital Midline Defect in Two Sisters

Background: Perineal groove is a rare congenital anorectal malformation. It is characterized as a non-epithelialized mucous membrane extending from the posterior fourchette of the vagina to the anterior edge of the anal orifice. The presence of a perineal groove is a benign condition, but it is not uncommon for misdiagnosis. Thus, healthcare provider awareness on this rare malformation can prevent inappropriate diagnostic workups and interventions.

Case: Two Caucasian female siblings, ages 10 months and 3 years old, presented to pediatric and adolescent gynecology (PAG) clinic due to a persistent perineal fissure that was present since birth. Both sisters were diagnosed with a perineal groove. The 3-year-old at the time of her visit in PAG clinic was symptomatic with vaginal irritation and small amount of vaginal bleeding when wiping after voiding. Regarding the 10-month-old sibling, she was symptomatic with erythema around the perianal skin. Expectations were for the perineal groove to heal spontaneously in both children and continued monitoring with treatment of symptoms was recommended.

Comments: Perineal groove was originally described by F.D. Stephens in 1968 and characterization of two types have been suggested: complete and partial. There are between 25-30 cases reported in the literature. The age at diagnosis varies from early as newborn up until the age of 7 years old. The mechanisms in which this condition arises is currently unknown, but several theories exist. Furthermore, there are no known genetic links with this condition. Aside from the two siblings in this case report, there have been limited reports of other genetically related individuals who were diagnosed with perineal groove.

Definitive diagnosis is made on clinical exam. Most affected patients heal spontaneously, and patients have a positive prognosis. However, some patients may be at increased risk for infections in the perineum or urinary tract problems. Surgical correction is an option for cosmesis or persistent infections and/or inflammation of the nonepithelized area. If surgery is desired, there is resection of the groove mucosa.

Perineal groove is a benign condition and generally resolves without invasive procedures. Healthcare providers should be aware of this condition in order to prevent inappropriate treatments.