Perineal groove in female infants: A case series and literature review.

BACKGROUND: Perineal groove is a rare congenital malformation that is unknown to many clinicians and is often misdiagnosed. Although it may be self-resolving during childhood, this nonepithelized mucous membrane can pose the risk of local irritation and infection, particularly urinary tract infection. METHODS: A retrospective study of female infants diagnosed with a perineal groove was performed, demographic characteristics and clinical features were analyzed, and a photographic review was conducted. RESULTS: Five patients with perineal groove were observed in our clinic in 2015-16. The mean age was 14 months. None had symptoms, and no treatment was required. During follow-up of 1 year, all remained asymptomatic. CONCLUSIONS: Our retrospective review suggests that perineal groove may be an underdiagnosed condition. Most cases resolve spontaneously, but confusion in diagnosis may lead to misdiagnosis or misinterpretation of sexual abuse and unnecessary treatments.

Midline congenital cervical cleft mimicking linear scleroderma.

Midline congenital cervical cleft is an extremely uncommon anomaly of the neck. Fewer than 100 cases have been reported. It is usually described as a cervical scar-like skin defect. We present a case of midline cervical cleft mimicking linear morphea and treated with topical steroids for 2 years. This is an unusual presentation of this entity that must be treated with surgical excision to confirm the diagnosis histopathologically.

Influence of constipation on enuresis.

INTRODUCTION: Constipation has classically been considered as a risk factor of enuresis, although there are increasingly more publications that report a similar prevalence of constipation in both enuretics and non-enuretics. OBJECTIVE: To determine the influence of constipation in monosymptomatic and non-monosymptomatic enuresis, and to find out the prevalence of the three disorders, as well as the lower urinary tract dysfunction and bladder-bowel dysfunction in the population. MATERIAL AND METHOD: A cross-sectional observational prevalence study on a representative population sample of 5-9 year-old school boys and girls of Galicia, Spain. A questionnaire was completed in the schools on urinary and bowel habits, which included questions from the Paediatric Lower Urinary Tract Scoring System (PLUTSS) diagnostic questionnaire and grading of the lower urinary tract dysfunctions. The enuresis was diagnosed using the International Children's Continence Society (ICSS), and if it was also associated with diurnal symptoms, it was also classified as non-monosymptomatic enuresis. The constipation was evaluated using the Rome III criteria and the adapted Bristol stool scale. RESULTS: A total of 772 questionnaires were included in the study. The prevalence of constipation was 20% and that of enuresis was 9.1% (62.9% monosymptomatic enuresis and 37.1% non-monosymptomatic), with the prevalence of bladder-bowel dysfunction being 5.2%. It was observed that constipation had no influence on the presence of monosymptomatic enuresis, but it did have an influence on non-monosymptomatic enuresis and lower urinary tract dysfunctions, where it was a significant risk factor. CONCLUSIONS: The differential diagnosis between monosymptomatic and non-monosymptomatic enuresis is essential in the initial evaluation of the patient with enuresis, since the therapeutic management and the characteristics of both disorders are different, with constipation only being a risk factor in cases of non-monosymptomatic enuresis.

Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseus Heteroplasia.

Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a unique case of POH in two monochorionic twins, who presented an almost asymptomatic vs. the severe clinical course, despite sharing the same mutation and genetic background. We also report the results of the therapeutic interventions currently available for heterotopic ossification in the patient with the severe course. This article not only critically supports the assumption that the POH course is strongly influenced by factors beyond genetic background but also remarks the lack of options for patients suffering an orphan disease, even after testing drugs with promising in vitro results.

Corrigendum: Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseous Heteroplasia.

[This corrects the article DOI: 10.3389/fped.2021.662669.].

Reactive hydrocele after laparoscopic Palomo varicocele ligation in pediatrics.

OBJECTIVES: To evaluate the incidence of hydrocele following laparoscopic Palomo varicocele ligation in pediatric and adolescents in our institution. METHODS: Between 1997 and 2009, 180 boys diagnosed as having varicocele who underwent Palomo laparoscopic ligation were evaluated retrospectively. Outcome variables recorded for analysis were age at presentation, symptoms, varicocele grade (Dubin-Amelar classification), testicular atrophy, length of hospital stay, perioperative complications, recurrence and hydrocele formation after surgery. Mean follow up was 5.8 years (6 months- 9 years). RESULTS: Age at diagnosis ranged between 9 and 19 years. Mean age at operation was 14.1 ± 1.8 years. There were 177 left-side varicoceles (98%) and four cases were bilateral. Testicular atrophy was noted in 45. Mean operative time was 38 min. The last 63 surgeries were performed on a two-trocar basis with Ligasure vascular sealing device and operative time decreased significantly to 22 min. Median hospital stay was 31h. Twenty-three patients developed hydrocele (13%); 11 of these underwent Winkelman-Lord's hydrocelectomy at least 1 year after Palomo (9% of total). Of the remaining 12, two resolved spontaneously and 10 were stable at mean 4-year follow up. CONCLUSIONS: Laparoscopic Palomo procedure is a safe successful method to correct varicoceles in pediatric and adolescent males. Reactive hydrocele formation following laparoscopic varicocelectomy is a worrisome problem particularly in cases with longer follow-up.

[Epigenetics as a diagnostic and prognostic tool for pyeloureteral stenosis.] / La epigenética como herramienta diagnóstica y pronóstica en la estenosis pieloureteral.

OBJECTIVE: In the last few years, numerous studies have focused on the genetics of the renal system. Betchel et al in 2010 demonstrated that methylation, as a epigenetic phenomenon, would be involved in the perpetuation of fibrosis. In our study, we want to demonstrate whether epigenetics is related to pyeloureteral stenosis and, if that is the case, if it could be used as prognostic and diagnostic biomarker. METHODS: This is a descriptive observational and cross-sectional study that analyzed the methylation in DNA extracted from pyeloureteral junction samples obtained from surgery in pediatric patients in the period from 1999 to 2015, resulting in a total of 20 patients. Clinical data were analyzed using correlation tests and they were grouped with a free access software statistical phylogenetic package called PHYLIP. The selected genes for methylation-specific PCR (MSP) were the following: p16, RASSF1A, MGMT, Cyclin D-2, HIN-1, E-Cadherin and RASAL-1. RESULTS: The clinical-radiological data analyzed phylogenetically by the PHYLIP program established 7 groups of patients. The results of methylation showed a considerable proportion of aberrant methylation in the promotor region of the genes p16 (25%), MGMT (15%), E-Cadherin (25%), HIN-1 (25%) and RASAL-1 (35%). The association of the clinical-radiological groups with methylation/non-methylation states of each gene was also analyzed. CONCLUSIONS: This study demonstrates that methylation does have a role in fibrosis developed in pyeloureteral stenosis. Two clinical patterns of poor prognosis associated with two epigenetic methylation cluster. RASAL- 1, E-Cadherin, HIN-1 and p16 would be candidates for future studies on their prognostic implications in pyeloureteral stenosis.

OBJETIVO: En los últimos años, numerosos estudios se han centrado en la genética del sistema renal. Betchel et al. en 2010, demostraron como la metilación, fenómeno epigenético, estaría implicado en la perpetuación de la fibrosis. En nuestro estudio queremos demostrar si la epigenética tiene relación con la estenosis pieloureteral y en caso de ser así, si podría ser utilizada como material pronóstico y diagnóstico. MATERIAL Y MÉTODOS: Se ha realizado un estudio descriptivo observacional o transversal en el que se analizó la metilación en el ADN extraído de las muestras de unión pieloureteral en pacientes pediátricos obtenidas durante la cirugía entre 1999 y 2015, resultando un total de 20 pacientes. Los datos clínicos-radiológicos se analizaron según correlación y agrupación de los mismos mediante un paquete software filogenético/estadístico denominado PHYLIP de acceso libre gratuito. Los genes seleccionados sobre los que se realizó la PCR específica de metilación (MSP) fueron: p16, RASSF1A, MGMT, Ciclina D-2, HIN-1, E-Cadherina y RASAL-1. RESULTADOS: Los datos clínico-radiológicos analizados filogenéticamente mediante el programa PHYLIP establecieron 7 grupos de pacientes. Los resultados con respecto a la metilación mostraron una proporción considerable de metilación aberrante en la región del promotor de los genes p16 (25%), MGMT (15%), E-Cadherina (25%),HIN-1 (25%) y RASAL-1 (35%). Se analizó la asociación de los grupos clínico-radiológicos con los estados de metilación/no metilación de cada gen. CONCLUSIONES: Se demuestra que la metilación sí tiene un papel en la fibrosis desarrollada en la estenosis pieloureteral destacando dos patrones clínicos de mal pronóstico asociados a dos clusters epigenéticos de metilación. RASAL-1, E-Cadherina, HIN-1 y p16 serían los candidatos para desarrollar estudios futuros sobre sus implicaciones pronósticas en la estenosis pieloureteral.

A simple dressing for hypospadias surgery in children.

One of the most controversial aspects of hypospadias surgery is the election of an appropriate wound dressing. In fact, there may be as many different types of dressing as there are types of surgical repair. Here, we describe a new, simple method for hypospadias dressing in children that minimizes painful removal.

[Validation of the spanish version of the pediatric lower urinary tract symptoms scale (PLUTSS).] / Validación de la versión española de la escala de síntomas de malfunción del tracto urinario inferior en población pediátrica (PLUTSS).

OBJECTIVES: Lower Urinary Tract Dysfunction (LUTD) is the most common clinical problem in pediatric urology. To our knowledge non-validated instruments properly designed to screen lower urinary tract symptoms in the pediatric population has been translated and adapted to Spanish population. Pediatric Lower Urinary Tract Symptoms Score (PLUTSS) has proven to be a valid questionnaire for screening and evaluation of the response of children with LUTD to therapy. The aim of this study was to validate the PLUTSS questionnaire into Spanish, and put it to clinical use in pediatric patients, with cross-cultural equivalence to the original version. METHODS: The PLUTSS questionnaire was validated between February 2015 and February 2016. The Spanish version was obtained by using the forward/ back-translation method with expert, bilingual translator, complying with the ISPOR principles. The questionnaire was administered to 80 patients with either lower urinary tract symptoms (40) or without any urological complaints (40). A descriptive statistical analysis of interscale correlation was performed. To confirm reliability, testretest reliability was assessed by intra-class correlation coefficient, and the internal consistency was assessed by Cronbach's alpha coefficient. ROC curve was used to define cutpoint and its validity in discrimination between groups. RESULTS: The median of the two groups was significantly different: 20.53 (patients with LUTD) vs 3.27 (controls). Internal consistence of the 13-item scale (without quality of life item) was high: Cronbach alpha coefficient 0.827. The test-retest analysis of reproducibility showed an intra-class correlation coefficient of 0.997 (95%IC: 0.994-0.999) (p<0.0001). CONCLUSIONS: The Spanish version of the PLUTSS questionnaire has proven to be acceptable and culturally equivalent to the original version. It has a good degree of consistency, validity and reliability. PLUTSS showed a high power to discriminate patients with LUTD.

Congenital absence of preputial foreskin: an extremely uncommon anomaly.

The part of the penile skin that covers the glans penis is named prepuce or foreskin. The embryologic development of the prepuce and urethra is related. Several congenital anomalies of the prepuce have been previously reported, but the absence of the prepuce with a normal development of the urethra is a very rare association. We report a sporadic case with absence of the prepuce and normal urethral development.

Prolapsed cecoureterocele presented as a prenatal genital mass: A urological challenge.

Prolapse of a cecoureterocele through the urethra presenting as a prenatal vulval mass is an extremely uncommon entity. We present a case of a newborn girl with a cecoureterocele extending through the urethra (diagnosed at 29 weeks' gestation) and we present its postnatal findings and outcomes.

Incomplete unilateral polyorchidism (bilobed testicle) mimicking testicular tumour.

Incomplete polyorchidism (also called bilobed testicle) is an extremely uncommon congenital anomaly. Only 3 cases of bilobed testicle were previously reported in the available literature. We describe a case of a 4-year-old boy who presented with a 6-month history of an asymptomatic scrotal mass located in the upper pole of the left testicle mimicking testicular tumour. After partial orchiectomy, macroscopic and pathological examination of the lesion confirmed the diagnosis of normal testicular tissue.