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
