Two Cases of Perianal Redness
Case 1: 9-Day-Old Brought For Newborn Well-Child Visit
This baby was born via spontaneous vaginal delivery at 38 weeks’ gestation to a 24-year-old gravida 2, para 2 mother. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. She had an uneventful course in the newborn nursery, during which she urinated and passed meconium. The mother had received appropriate prenatal care, including standard prenatal ultrasonograms, which were normal. The pregnancy was uncomplicated, and results of serologies were all negative.
Figure A-Image Not Available Online
The infant had been breastfeeding exclusively. Weight was 3.2 kg; length and head circumference were both around the 50th percentile. A cleft of red, moist mucosa extending from the posterior fourchette to the anus was noted (A). Examination of the area did not irritate the infant, and there were no signs of infection or inflammation. Mild vaginal discharge, appropriate for a newborn, was also present. All other genital findings were normal. Rectal examination revealed an intact, normally-placed anus with appropriate tone. Remaining physical examination findings were normal.
The mother and father were both present at the visit and stated that the child had not spent time in daycare or with any other caregivers. They had been concerned about the lesion since birth and had been treating it with a petroleum-based ointment at each diaper change. A phone call to the local Department of Social Services, as part of a preliminary investigation into families in whom there may be concern for abuse, revealed no previous or open cases related to this family.
ELIZABETH E. HALVORSON, MD
and MEGGAN GOODPASTURE, MD
Wake Forest Baptist Medical Center
Dr Halvorson is a resident and Dr Goodpasture is assistant professor of pediatrics in the department of pediatrics at Wake Forest Baptist Medical Center in Winston-Salem, NC.
Case 2: 15-Month-Old Brought For Well-Child Visit
This toddler had a normal birth history and no significant medical history. The child lived with her mother and her mother’s boyfriend. She was brought by her mother, who is the primary caretaker for the child. During the visit, she expressed concern that the child had been constipated for about a month with large firm stools, seemingly difficult to pass.
Figure B-Image Not Available Online
Examination showed an alert, playful child, with normal vital signs. Growth parameters for height, weight, and head circumference were appropriate. Chest, abdominal, and musculoskeletal findings were unremarkable. Genital examination was notable for perianal redness, without apparent fissures or bleeding, and an erythematous moist longitudinal cleft of mucosa extending from the posterior commissure to the anterior border of the anus (B). The labia minora, labia majora, hymen, and urethral opening were normal. There was no vaginal discharge or bleeding. Based on the genital findings, sexual abuse was a concern.
SHILPA KUMTA, MD, CYNTHIA KATZ, MD,
and STEPHEN AJL, MD
The Brooklyn Hospital Center
Dr Kumta is a second-year resident and Dr Katz is associate residency program director and attending physician in the department of pediatrics at The Brooklyn Hospital Center in Brooklyn, NY. Dr Ajl is medical director, Jane Barker Brooklyn Child Advocacy Center, and director of pediatric ambulatory care at The Brooklyn Hospital Center.
Do these cases represent sexual abuse?
No, the child in each case has a perineal groove, a benign congenital anomaly.
Case 1: The 9-Day-Old Infant
Frequently, this finding in an infant raises concern for physical or sexual abuse. A thorough history and psychosocial assessment, in addition to a complete physical examination, are crucial components of a comprehensive child abuse evaluation. If these do not raise any additional concerns, it is critical that the physician consider a complete differential diagnosis, which includes not only trauma but also a congenital variant.
In this case, a review of the literature led to the diagnosis of a perineal groove, also known as a failure of midline fusion. This rare congenital condition first described by Stephens1 in 1968 has 3 major features:
•A moist perineal cleft between the posterior fourchette and the anus.
•A normally developed vagina and urethra.
•Hypertrophy of the labial tails that surround the cleft.
The anomaly may be associated with either a normally-placed or an ectopically-placed anus. Although originally thought to occur only in girls, a variation of the perineal groove with associated penoscrotal hypospadias has been documented in a boy.2
In general, conservative management is considered the best approach and was advised for this patient. Long-term complications may occur and include constipation, urinary tract infection, and mucous discharge.
This case highlights 2 lessons for the clinician. First, it is critical that a thorough anogenital examination be completed at the time of birth so that any abnormalities can be documented. This can help prevent confusion regarding the possibility of trauma after discharge from the newborn nursery. Second, awareness of the perineal groove can avoid misdiagnosis and save the patient unnecessary surgical and child abuse evaluations. In the absence of other physical findings or
concerns about the parent-child relationship, the finding of an isolated perineal groove should be correctly identified as a congenital anomaly and not as evidence of abuse. n
1. Stephens FD. The female anus, perineum and vestibule. Embryogenesis and deformities. Aust N Z J Obstet Gynaecol. 1968;8:55-73.
2. Chatterjee SK, Chatterjee US, Chatterjee U. Perineal groove with penoscrotal hypospadias. Pediatr Surg Int. 2003;19:554-556.
Case 2: The 15-Month-Old Toddler
On further questioning, the child’s mother revealed that this anatomical anomaly had been explained to her when the baby was born. The mother understood that there was no reason to be concerned. Pediatricians and neonatologists who have yet to come across this condition may misinterpret it as a result of accidental or nonaccidental trauma.
As described in Case 1, a perineal groove is a wet sulcus that extends from the fourchette to the anus. The remainder of the vulvar anatomy, including the vestibule, urethra and anterior two-thirds of the vagina, is normal in the child with a perineal groove.1 The incidence of this rare congenital anomaly is unknown. It can occur in males and females.
The embryological pathogenesis of a perineal groove is unclear. It has been thought to arise from failure of fusion of the medial genital folds. Normally, fusion of the medial genital folds in the middle area between the rectum posteriorly and the labia majora or the scrotum, anteriorly, forms the perineal raphe. Failure of this fusion results in incomplete development of the external genitalia with formation of a perineal groove.2 Alternative explanations for the origin of a perineal groove are an embryological remnant of the urorectal septum and a relic of the open cloacal duct.1
Perineal grooves are generally self-resolving but may take more than a year to epithelialize spontaneously, as was true in this child.1 Surgical correction is for cosmetic reasons only. This child had constipation, which is a rare complication associated with perineal grooves. This was treated with stool softeners. She had had no urinary tract infections or mucous discharge. n
1. Sekaran P, Shawis R. Perineal groove: a rare congenital abnormality of failure of fusion of the perineal raphe and discussion of its embryological origin. Clin Anat. 2009;22:823-825.
2. Abdel Aleem A, el Sheikh S, Mokhtar A, et al. The perineal groove and canal in males and females—a third look. Z Kinderchir. 1985;40:303-307.
FOR MORE INFORMATION:
Adams JA, Horton M. Is it sexual abuse? Confusion caused by a congenital anomaly of the genitalia. Clin Pediatr (Phila). 1989;28:146-148.
Kadowaki H, Nakahira M, Yamada C, et al. Perineal groove and perineal canal. Jpn J Surg. 1983;13:216-218.
Mullassery D, Turnock R, Kokai G. Perineal groove. J Pediatr Surg. 2006;41:e41-e43.
van der Putte SC. Normal and abnormal development of the anorectum.
J Pediatr Surg. 1986;21:434-440.