A Congenital Perineal Midline Defect in a 3‐Month‐Old Girl

Le résumé fourni par la source

A 3-month-old girl presented with a lesion since birth located below the vaginal fourchette. Clinical examination revealed a painless, nonkeratinized wet sulcus located between the vaginal fourchette and the perianal area (Figure 1). Many topical treatments had been tried without any improvement. Diagnosis: Congenital perineal groove. A perineal groove is a congenital anomaly of the perineum that is rarely described in the literature and mainly affects girls [1]. It is most likely underdiagnosed. Clinically, it presents at birth as a linear, erosive, sometimes exudative nonkeratinized lesion located between the vaginal fourchette (or the scrotum) and the anus, associated with overhanging borders. The complete perineal groove extends from the vaginal fourchette to the anus, while the incomplete form extends either from the vaginal fourchette to the middle of the perineum, or from the anus to the middle of the perineum [2]. Although the etiology, the incidence, and the pathogenesis are not well understood, authors suggest that it could be an embryological remnant; a urorectal septum malformation; a persistent cloaca, or the incomplete fusion of the perineal raphe or median genital folds [3, 4]. The histopathologic evaluation of resected lesions shows varied results from a nonkeratinized stratified squamous epithelium to an epithelium of a rectal-type mucosa suggesting the occurrence of a defect during urorectal septum development of cloacal embryology stages [5]. Cases have been reported in monozygotic twins; in a child born after in vitro fertilization; and in four children whose mothers had not received folic acid supplementation during pregnancy [2, 3, 5]. While perineal groove is commonly reported as an isolated condition, association with anal, genital, or renal anomalies is described including: hypospadias, imperforate anus, rectoperineal fistula, and bifid scrotum in boys, and vestibular fistula and anterior anus in girls [1, 6, 7]. A recent series of 66 cases demonstrated an association with anorectal malformation in 34.8% of patients [8], suggesting the importance to screen for anomaly of the surrounding structures. However, there are no recommendations for a specific screening work-up. Characteristic clinical presentation and presence since birth can help rule out other conditions in the differential diagnosis including anal fissure, diaper dermatitis, perineal trauma, or sexual abuse [1]. Although rare, the most common complications of perineal groove are local infection and irritation, or urinary tract infection [6]. In most cases, self-resolution and complete epithelialization occur by the age of 1–2 years. Early parental counseling on hygiene and gentle care of the isolated defect could be recommended to prevent infection and irritation. Surgical correction can be performed for recurrent infection or if the lesion is not epithelized after 2 years [3-5, 8, 9].

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.