Guerra-Junior G, Aun A M E, Miranda M L, Beraldo L P, Guimaraes Moraes S, Baptista M T M, Marques-de-Faria A P, Maciel-Guerra A T
Department of Pediatrics, State University of Campinas, Campinas, Sao Paulo, Brazil.
Eur J Pediatr Surg. 2008 Aug;18(4):269-71. doi: 10.1055/s-2008-1038366. Epub 2008 Aug 14.
Congenital perineal lipoma is extremely rare and may lead to a misdiagnosis of ambiguous genitalia.
We report on two girls referred to our service for ambiguous genitalia. Patient 1 (17 days old) and patient 2 (2 months old) had unremarkable gestational and perinatal histories. Both had normal female external genitalia and a 46,XX karyotype. Patient 1 had a polypoid, protruding 3.0 x 2.0 x 1.5-cm phallic-like mass arising at the inferior border of the left labium majora, and patient 2 had a similar mass of 1.5 x 1.5 x 1.0 cm at the same site and an imperforate anus. In both cases the mass was removed and found to be a lipoma.
To our knowledge, perineal lipoma has been reported only in eleven girls, nine of them with associated anorectal malformation. Migration and fusion of the labioscrotal folds and formation of the urorectal septum are simultaneous developmental events occurring in the same region, which may explain the association of perineal lipoma and anorectal malformations.
先天性会阴脂肪瘤极为罕见，可能导致两性畸形的误诊。
我们报告了两名因两性畸形转诊至我院的女孩。患者1（17天）和患者2（2个月）的妊娠和围产期病史均无异常。两人的女性外生殖器均正常，核型为46,XX。患者1在左大阴唇下缘有一个息肉样、突出的3.0×2.0×1.5厘米阴茎样肿物，患者2在同一部位有一个1.5×1.5×1.0厘米的类似肿物及肛门闭锁。两例患者的肿物均被切除，病理检查均为脂肪瘤。
据我们所知，仅报道过11例女孩患有会阴脂肪瘤，其中9例伴有肛门直肠畸形。阴唇阴囊褶的迁移和融合以及尿直肠隔的形成是在同一区域同时发生的发育事件，这可能解释了会阴脂肪瘤与肛门直肠畸形的关联。
