A Case of Perineal Hemangioma, External Genitalia Malformations, Lipomyelomeningocele, Vesicorenal Abnormalities, Imperforate Anus, and Skin Tag (PELVIS) Syndrome with Extensive Perineal Infantile Hemangioma.

Hye Won Hwang, Seon Bok Lee, Jeonghyun Shin, Gwang Seong Choi, Ji Won Byun
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Abstract

PELVIS syndrome describes the constellation of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag. A 2-month-old girl presented with infantile hemangioma on her perineum and genitalia with imperforate anus, rectovaginal fistula and perineal skin tag at birth. Under the impression of PELVIS syndrome, consequential spinal sonography was conducted and revealed an intrasacral meningocele without clinical neurologic deficit. The anorectal malformation was surgically corrected, she was taking oral propranolol for the cutaneous lesion, and she showed improvement and no complications.

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1例伴广泛性腓婴儿血管瘤的腓血管瘤、外生殖器畸形、骨髓脊膜膨出、膀胱肾异常、肛门闭锁和皮肤标签(PELVIS)综合征。
PELVIS综合征描述了会阴血管瘤、外生殖器畸形、脊髓脊膜膨出、膀胱异常、肛门闭锁和皮肤标签。一名2个月大的女孩在出生时出现会阴和生殖器上的婴儿血管瘤,伴有肛门闭锁、直肠阴道瘘和会阴皮肤标签。在PELVIS综合征的印象下,进行了相应的脊柱超声检查,发现肢端内脊膜膨出,没有临床神经功能缺损。肛门直肠畸形通过手术矫正,她正在口服普萘洛尔治疗皮肤损伤,她表现出改善,没有并发症。
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