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CC BY-NC-ND 4.0 · AJP Rep 2021; 11(01): e54-e57
DOI: 10.1055/s-0041-1727145
Case Report

Congenital Perineal Groove Defect in Monozygotic Twin Infants: A Literature Review

Mimily Harsono 
1   Department of Pediatrics, Division of Neonatal-Perinatal Medicine, University of Tennessee Health Science Center, Memphis, Tennessee
2   Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee
,
David Yanishevski
2   Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee
,
Massroor Pourcyrous
1   Department of Pediatrics, Division of Neonatal-Perinatal Medicine, University of Tennessee Health Science Center, Memphis, Tennessee
2   Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee
3   Department of Obstetrics/Gynecology, University of Tennessee Health Science Center, Memphis, Tennessee
4   Department of Physiology, University of Tennessee Health Science Center, Memphis, Tennessee
› Author Affiliations Funding Source No external funding.
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Abstract

Perineal groove is a rare benign congenital anomaly with lesion that resembles perforation of mid-perineum or perineal raphe area. Most reported cases of congenital perineal groove presented as an isolated defect in term or early-term singleton female infants. Thus far, there is no reported case of this anomaly in monozygotic twins. Embryo pathogenesis of this female predominance congenital defect remains controversial. Many clinicians are unfamiliar with this congenital anomaly. This congenital defect tends to get self-resolved at around 2 year of age. Nevertheless, the exposed nonepithelized mucous membrane can carry risk of local infection or irritation with the possibility of requiring early surgical correction. The defect can be infrequently associated with other ano-urogenital malformations that required immediate surgical intervention. Most isolated cases tend to be asymptomatic and self-healed with expectant management. Surgical correction may be considered if not healed after 2 years of age. Early diagnosis at birth is important to avoid misdiagnoses at later age for trauma, dermatitis, sexual abuse, and risk of unnecessary aggressive intervention. Early parental counseling for providing good hygiene and close follow-up is important to prevent infection or inflammation. Presentation of this anomaly in both monozygotic twins may support the hypothesis of potential disruption during embryo morphogenesis stages.

Keywords

congenital anomaly - perineal groove - perineal defect - monozygotic twins - newborn

Authors' Contribution

M.H. was involved in diagnosis, patient care, literature review, obtaining IRB approval, obtaining parental consent, photographs, writing the first manuscript draft, revision, and approval of the final manuscript as submitted. D.Y. was involved in diagnosis, patient care, literature review, writing the first draft of the case presentation, and approval of the final manuscript as submitted. M.P. was involved in diagnosis, patient care, literature review, critical review, revision, and approval of the final manuscript as submitted.


Financial Disclosure

The authors and/or their family members do not have any financial association relevant to this article to disclose.


Patient Consent

The case report study, which included the photographs have received an IRB approval from University of Tennessee Health Science Center and Regional One Health Hospital to conduct the study. All photographs and clinical history provided in this case report have a written consent form signed by both twin patients' parent or legal guardian for the purpose of medical literature publication and education. Both patients' personal information was de-identified in the manuscript article and figures.




Publication History

Received: 28 December 2020

Accepted: 11 January 2021

Article published online:
31 March 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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