A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report

Abstract

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

Case Report: Congenital Perineal Lipoma Associated With Additional External Genitalia Anomalies

“…All our patients had one or more anomalies associated with congenital perineal lipoma. Among the variety of congenital perineal masses, perineal lipomatous malformations are most commonly associated with other congenital abnormalities: mostly genitourinary or anorectal malformations but rarely with musculoskeletal anomalies (2,(4)(5)(6)16). In our case series, all had an external genitalia abnormality; moreover, case number 2 had a peculiarity that the perineal lipoma was associated with skeletal malformation in addition to the accessory labioscrotal fold, which had been only reported once (17).…”

“…This hypothesis, however, does not satisfactorily explain the etiology of accessory scrotum/labioscrotal fold, because the anomaly may occur without any concomitant perineal tumor. Furthermore, perineal lipoma may arise related to other scrotal anomalies such as ectopic scrotum ( 2 ) or is associated with further urogenital abnormalities such as hypospadias ( 4 ), cryptorchidism ( 5 ), and cervovaginal duplication ( 6 ), or it may arise as an isolated lesion ( 1 ). More recently, in 2014, Iida et al, similar to Sule, hypothesized that an aberrant adipose tissue in the perineum during the early phase of gestation disturbed the fusion of the labioscrotal folds, and, in turn, the remaining tissue became the accessory scrotum ( 19 ).…”

“…Congenital lipoma is a benign tumor, which rarely occurs in infants, usually involving the trunk, nape, abdomen, forearms, buttocks, and thighs, while it is infrequent on the face, scalp and calves (1). A perineal position is sporadic and is generally associated with other genitourinary or anorectal anomalies (2)(3)(4)(5)(6), whereas isolated forms are anecdotal (1).…”

Posterior urethral hamartoma with hypospadias in a child: a case report and literature review

“…The most common site of hamartoma is the kidney ( 5 ), followed by the lung ( 6 ), hypothalamus ( 7 ), and liver ( 8 ). It rarely occurs in the perineum ( 9 , 10 ), and it is even rarer in the urethra ( 11 ), which has not been reported in China.…”

Sonographic imaging and differential diagnosis of fetal perineal masses

“…Findings associated with anorectal malformations and persistent cloaca may resemble a perineal mass, and therefore the differential diagnosis is essential. Most of the literature cases, specifically those diagnosed prenatally, are case reports [1][2][3][4][5][6][7][8][9][10][11]. Although the fetal perineum is not routinely assessed as a part of the fetal anatomical scan, we have implemented it to all fetal examinations referred for targeted scans in recent years.…”