Characteristics and treatment of congenital perineal groove in male patients.

Background: Congenital perineal groove (CPG) of male patients has rarely been reported before. The purpose of this study was to review our cases and describe their characteristics and treatment. Methods: Four male patients diagnosed with CPG were included in this study. Medical records were retrospectively reviewed. Type of CPG and anal position index (API) of the patients were recorded. Follow-up was through outpatient visits. Results: Their age ranged from 4 years and 2 months to 10 years and 9 months. Among the four patients, two complained of intermittent CPG mucosal hemorrhage and the other two had mucous secreting and soiling. The API was 0.24, 0.35, 0.36, and 0.40 for each patient, respectively, all represented anterior displacement. Type of CPG for the four patients were all partial, and the sulcus was from the posterior perineum to the edge of anus. Two patients were associated with hydrocele, imperforated anus, and rectoperineal fistula; one patient had left varicocele; the remaining patient had sacrum split. All the patients had no postoperative complication, and during the follow-up period of 5-8 months, no symptoms recurred in the four patients; they all had normal defecation. Conclusions: Both genders share the common three characteristics. In addition, shortened perineum with anterior anus, association of perineal malformations, and partial type occurrence are the extra morphological features in male patients. Furthermore, CPG in males are rarely accompanied by urinary tract infection. Favorable prognosis could be reached after operation.

Congenital defects and herpesvirus infection in beluga whale Delphinapterus leucas calves from the Critically Endangered Cook Inlet population.

Cook Inlet beluga whales (CIBs) Delphinapterus leucas are Critically Endangered and genetically distinct from other beluga populations in Alaska. CIBs are exposed to numerous natural and anthropogenic sources of mortality and morbidity. This study describes congenital defects observed in 2 CIB calves. The first case, an aborted fetus, was characterized by lack of a peduncle and flukes, anorectal and genitourinary dysgenesis, and probable biliary dysplasia. The second case, a male calf, had a perineal groove defect and suspected secondary peritonitis; it also had a systemic herpesvirus infection. Further studies are needed to determine if such defects are due to genetic mutation, infectious diseases, nutritional imbalances, or contaminant exposure.

Perineal groove: an old, little known entity. / Surco perineal: un viejo poco conocido.

INTRODUCTION: Perineal groove is an infrequent midline malformation. It is a humid, mucosal, non-keratinized groove located at the perineal midline, extending from the vulvar fourchette to the anterior anal border. It is rare and usually asymptomatic, and it heals spontaneously in most cases. It is frequently mistaken for other malformations, which means correctly identifying it is essential to avoid iatrogenesis. CLINICAL CASE: We present the case of a female newborn with an asymptomatic lesion at the perineal midline consistent with anorectal malformation. Following assessment by the Pediatric Surgery Department, she was diagnosed with perineal groove. DISCUSSION: Perineal groove is a little known malformation among healthcare professionals as it is infrequent and there are not many publications in the literature about it. This case demonstrates how important it is to keep this abnormality in mind to avoid erroneous diagnoses, unnecessary treatments, and family stress.

INTRODUCCION: El surco perineal es una malformación infrecuente de la línea media. Se trata de un surco húmedo, mucoso y no queratinizado localizado en la línea media del periné desde la horquilla vulvar hasta el borde anal anterior. Es una malformación infrecuente, usualmente asintomática y de resolución espontánea en la mayoría de los casos. Esta anomalía es frecuentemente confundida con otras malformaciones por lo que su reconocimiento es fundamental para evitar yatrogenia. CASO CLINICO: Se presenta el caso de una recién nacida con una lesión asintomática en la línea media del periné sospechosa de malformación anorrectal. Tras valoración por el Servicio de Cirugía Pediátrica se diagnosticó de surco perineal. COMENTARIOS: Debido a la infrecuencia y escasa documentación bibliográfica del surco perineal, esta malformación es desconocida para muchos sanitarios. Este caso expone la importancia de tener presente esta anomalía para evitar diagnósticos erróneos, tratamientos innecesarios y estrés familiar.

Surco perineal: un viejo poco conocido / Perineal groove: a little-known old man

Introducción: El surco perineal es una malformación infrecuente dela línea media. Se trata de un surco húmedo, mucoso y no queratinizado localizado en la línea media del periné desde la horquilla vulvar hastael borde anal anterior. Es una malformación infrecuente, usualmente asintomática y de resolución espontánea en la mayoría de los casos. Esta anomalía es frecuentemente confundida con otras malformaciones por lo que su reconocimiento es fundamental para evitar yatrogenia. Caso clínico: Se presenta el caso de una recién nacida con una lesión asintomática en la línea media del periné sospechosa de malformación anorrectal. Tras valoración por el Servicio de Cirugía Pediátrica se diagnosticó de surco perineal. Comentarios: Debido a la infrecuencia y escasa documentación bibliográfica del surco perineal, esta malformación es desconocida paramuchos sanitarios. Este caso expone la importancia de tener presente estaanomalía para evitar diagnósticos erróneos, tratamientos innecesarios y estrés familiar.(AU)

Introduction: Perineal groove is an infrequent midline malformation. It is a humid, mucosal, non keratinized groove located at theperineal midline, extending from the vulvar fourchette to the anterioranal border. It is rare and usually asymptomatic, and it heals spontane-ously in most cases. It is frequently mistaken for other malformations,which means correctly identifying it is essential to avoid iatrogenesis. Clinical case: We present the case of a female newborn with anasymptomatic lesion at the perineal midline consistent with anorectal malformation. Following assessment by the Pediatric Surgery Department, she was diagnosed with perineal groove. Discussion: Perineal groove is a little known malformation amonghealthcare professionals as it is infrequent and there are not many publications in the literature about it. This case demonstrates how importantit is to keep this abnormality in mind to avoid erroneous diagnoses, unnecessary treatments, and family stress.(AU)

Rare (uro-)genital pathologies in young girls mimicking sexual abuse.

Examinations of young children for suspicions of sexual abuse are challenging for the involved medical specialists because the consequences of the interpretation of the findings can be severe and dramatic. A broad knowledge of differential diagnoses including rare pathologies like urethral prolapse and failure of the midline fusion of the perineum, known as perineal groove, is essential in order to avoid unnecessary diagnostics and treatment, prejudgment, and to reduce patient family's anxiety. We report two independent cases of girls aged 7 months and 5 years suffering from these rare pathologies, one presenting with painless lower genital tract bleeding, the other showing a lesion of the perineum as random finding during a neuropediatrician's consultation. In both cases, the pathologies were initially misdiagnosed as injuries due to sexual assault, and judicial investigation procedures were initiated. In this paper, the characteristic symptoms and morphology of urethral prolapse and perineal groove are presented to enhance the awareness of these pathologies among forensic experts and help to establish the correct diagnosis.

Perineal Groove: Is It More Common Than We Think? Clinical Characteristics of Four Cases and Review of Literature.

Background: Perineal groove is a very rare congenital malformation that usually occurs in females. It has been described as a wet, un-epithelialized mucus tissue extending from the posterior vaginal fourchette to the anterior anal opening. It is generally asymptomatic and self-limited. Due to its rarity, it is often unfamiliar to clinicians, often leading to a missed diagnosis or unnecessary interventions. Methods: During the period from September 2017 to September 2020, four patients (two newborns and 2 infants) were diagnosed with perineal grooves. They were referred to the pediatric surgery clinic because of abnormal findings during their genital examinations. During the same period of time, the clinic received 12 other new patients with various forms of anorectal malformations. Results: All four patients were girls. During examinations by their respective pediatricians, an abnormality in the perineum was noted in each of the patients. The depth of the grooves varied between the four patients and extended from the anus to the vaginal fourchette. None of the patients experienced any other symptoms related to the malformation. All the cases were referred to the pediatric surgeon by their pediatricians as a diagnosed anal fissure or abnormal finding in the genitalia. In all four patients, the mothers did not take folic acid during the pregnancy. The four patients were observed, and no surgery was needed; in three of the cases, there was a complete spontaneous resolution while the fourth patient still remains under observation. Conclusions: Perineal groove is a rare malformation with a low incidence rate. It is more common in female infants and usually self resolves before the age of 2 years. The condition is diagnosed on clinical examination; however, it is easily misdiagnosed and may lead to unnecessary interventions and surgery.

Newborn twins with perineal grooves.

Twin girls born at term were noted to have hypertrophic and erythematous mucosal sulci extending from the posterior vaginal fourchette to the anterior ridge of the anus on their newborn exams. Pregnancy was complicated by gestational hypertension and dichorionic diamniotic twin pregnancy. No known traumas were sustained during delivery to either twin. Dermatology and obstetrics/gynecology were consulted who confirmed the diagnosis of perineal groove. Primary care follow-up was recommended, with referral to pediatric gynecology if the lesions did not epithelize by 2 years of age. Our case of perineal grooves is unique in that, to our knowledge, it is the first reported case of perineal grooves identified in both twins. Clinicians in the newborn nursery and primary care settings should perform routine genitourinary and anal examinations on all newborns to identify this benign lesion, which may limit misdiagnosis, inappropriate treatments, and invasive workups in the future.

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

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.

Clinical characteristics and conservative treatment of perineal groove.

PURPOSE: Perineal groove is a rare congenital anomaly of the perineum, and only a few papers describing a small number of cases have been reported in the medical literature. This study aimed to evaluate the clinical characteristics and proper management of perineal groove. METHODS: We performed a retrospective review of 26 pediatric patients who were diagnosed with perineal groove between January 2012 and October 2018 at our institution. RESULTS: Perineal groove was extremely prevalent among the females: 25 of the 26 patients were girls, and only one patient was a boy. All the patients presented with an unusual lesion at the anus or perineum, but no symptoms related to this anomaly. The median age at the first visit to our clinic was 1.5 month (range, 0.3-11.4 month). Two types, complete and partial, were used to categorize the appearance of perineal groove. In a sample group, 55% (12/22) of the patients had complete perineal groove while 45% (10/22) had partial perineal groove. One patient underwent an anoplasty at another hospital following the diagnosis of an imperforate anus. One male and 13 female patients were followed beyond the age of two, and 10 patients (71%) showed a natural healing process. CONCLUSION: Perineal groove manifested as two types of appearance and showed excellent results with conservative treatment in our study. A natural healing process can be expected in the long-term follow-up. Perineal groove must be differentiated from other defects to avoid unnecessary surgical treatment. LEVELS OF EVIDENCE: Therapeutic Study, Level IV.

Four Cases of Perineal Groove-Experience of a Greek Maternity Hospital.

Perineal groove is a well-defined clinical entity that belongs to a broader group of anorectal malformations. It is characterized by a non-epithelialized mucous membrane that appears as an erythematous sulcus in the perineal midline, extending from the posterior vaginal fourchette to the anterior anal orifice. The defect is gradually cicatrized, unless there are complications like infection, defecation disorders, trauma, and bleeding. The differential diagnosis includes several other conditions like trauma, infection, irritant dermatitis, lichen sclerosis, and ulcerated hemangioma. Since it is a rare malformation, it is often misdiagnosed and its presence often elicits unnecessary diagnostic workup and intervention. In this respect, neonatologists, dermatologists, or pediatric surgeons may under- or overestimate it. We report four cases of perineal groove out of 2250 live births at a Greek Maternity Hospital between September 2016 and April 2019. The "high" incidence of perineal groove cases in our Department allowed us to familiarize with this rare defect and minimize our clinical interventions.

Perineal Groove: Report of Two Cases and Review of the Literature.

Perineal groove is a rare anoperineal congenital malformation disease that usually affects newborn females. It is unknown to many clinicians, which usually leads to misdiagnosis. The pathogenesis of perineal groove is not clear, and there are few cases reported in the current medical literature. Perineal grooves in two newborn babies were described in this report, and the literature on perineal groove was also reviewed and analyzed to improve the recognition of this disease.

Perineal raphe with special reference to its extension to the anus: a histological study using human fetuses.

The raphe of the human penis and scrotum is considered to develop secondarily after disappearance of the initial midline seam by fusion of the bilateral genital folds. However, the fetal development was still obscure. We examined histological sections of 30 fetuses (17 males and 13 females) at 10-15 weeks. In male fetuses, the scrotum was not yet clearly identified because of no descent of testis. The perineal raphe was thin and wavy at 10 weeks, and it was continuous with and took a direction same as the inferior wall of the closed penile urethra after physiological hypospadias. Depending on growth of the bulbospongiosus muscle and corpus spongiosus penis, the midline intermuscular septum obtained a connection to the subcutaneous wavy raphe and made the latter thick and straight at 12-15 weeks. Notably, the perineal raphe extended posteriorly to attach to the external anal sphincter. In female fetuses, an epithelial fusion occurred along a short distance at the posterior end of the vestibule. However, in front of the external anal sphincter, a large midline mesenchymal tissue from the urorectal septum did not contain a raphe-like structure. Moreover, since the bilateral bulbospongiosus muscles were separated widely by the vestibule, they did not provide a midline septum. Fetal development of the perineal raphe was accelerated by reinforcement from the muscular septum. In contrast, without such a muscular support, the female raphe could not maintain its growth even if the seed appeared at the posterior end of the vestibule.

Perineal Groove: A Rare Congenital Midline Defect of Perineum.

Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up.

Perineal raphe with special reference to its extension to the anus: a histological study using human fetuses / 대한해부학회지

The raphe of the human penis and scrotum is considered to develop secondarily after disappearance of the initial midline seam by fusion of the bilateral genital folds. However, the fetal development was still obscure. We examined histological sections of 30 fetuses (17 males and 13 females) at 10-15 weeks. In male fetuses, the scrotum was not yet clearly identified because of no descent of testis. The perineal raphe was thin and wavy at 10 weeks, and it was continuous with and took a direction same as the inferior wall of the closed penile urethra after physiological hypospadias. Depending on growth of the bulbospongiosus muscle and corpus spongiosus penis, the midline intermuscular septum obtained a connection to the subcutaneous wavy raphe and made the latter thick and straight at 12-15 weeks. Notably, the perineal raphe extended posteriorly to attach to the external anal sphincter. In female fetuses, an epithelial fusion occurred along a short distance at the posterior end of the vestibule. However, in front of the external anal sphincter, a large midline mesenchymal tissue from the urorectal septum did not contain a raphe-like structure. Moreover, since the bilateral bulbospongiosus muscles were separated widely by the vestibule, they did not provide a midline septum. Fetal development of the perineal raphe was accelerated by reinforcement from the muscular septum. In contrast, without such a muscular support, the female raphe could not maintain its growth even if the seed appeared at the posterior end of the vestibule.

Surco perineal en ginecología infantil: reporte de 2 casos clínicos / Perineal groove in pediatric gynecology: a report of 2 cases

Introduction: the perineal groove is a very uncommon anorectal anomaly. It is the result of an unknown embryology anomaly. The perineal groove is a wet sulcus extending from de fourchette to the anus. It is a benign pathology and tends to resolve spontaneously. Objective: We report two cases of girls diagnosed with perineal groove and their follow up. Cases reports: The first case is an 18 days old baby girl, that during her first clinical examination there was found a painless lineal lesion in the perineum from the fourchette to the anus, which created a big anxiety in her family. She was cared at the Pediatric Gynecology Unit, with local lubrication, doing well with the epithelization of it. The second case is an 8 year-old girl who consulted because, when being a child, she was diagnosed with a perineal lesion, but she didn't receive any special treatment and now she feels some aches in the perineum. Conclusions: The perineal groove is a benign entity pretty unknown by general practitioners or pediatricians. It is important to be up to date with this condition to avoid alarming misinterpretations.

Introducción. El surco perineal es una malformación poco frecuente, de etiología desconocida, consiste en una ranura en la línea media del periné desde la horquilla vulvar al ano, es benigna y tiende a la resolución espontánea. Objetivos: Reportar el diagnóstico y evolución de dos pacientes con surco perineal. Casos clínicos: Caso 1. Recién nacida de 18 días que previo al alta de maternidad se pesquisó una lesión lineal no dolorosa desde la horquilla vulvar al ano, lo que generó gran inquietud en su familia. En Ginecología Infantil se confirmó el diagnóstico, se manejó con lubricación del área genital evolucionando a la epitelización del surco. Caso 2. Niña de 8 años consultó por que en controles de salud se diagnosticó una "fisura" entre la horquilla vulvar y el ano que no fue tratada y presentaba molestias inespecíficas en el periné. Se indicó resección quirúrgica, pero paciente evolucionó satisfactoriamente con lubricación de la zona. Conclusiones. El surco perineal es una entidad benigna que debe ser conocida por médicos de atención ambulatoria debido a la alarma que pueden generar sus diagnósticos diferenciales.