1例伴有广泛会阴婴儿血管瘤的会阴血管瘤、外生殖器畸形、脂肪脊髓脊膜膨出、膀胱肾异常、肛门闭锁和皮赘（PELVIS）综合征
A Case of Perineal Hemangioma, External Genitalia Malformations, Lipomyelomeningocele, Vesicorenal Abnormalities, Imperforate Anus, and Skin Tag (PELVIS) Syndrome with Extensive Perineal Infantile Hemangioma.
作者信息
Hwang Hye Won, Lee Seon Bok, Shin Jeonghyun, Choi Gwang Seong, Byun Ji Won
机构信息
Department of Dermatology, Inha University School of Medicine, Incheon, Korea.
出版信息
Ann Dermatol. 2023 May;35(Suppl 1):S88-S92. doi: 10.5021/ad.21.183.
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.
骨盆综合征描述了会阴血管瘤、外生殖器畸形、脂肪脊髓脊膜膨出、膀胱肾异常、肛门闭锁和皮赘这一系列症状。一名2个月大的女孩出生时会阴部和生殖器有婴儿血管瘤，伴有肛门闭锁、直肠阴道瘘和会阴部皮赘。在骨盆综合征的诊断印象下，进行了后续的脊髓超声检查，发现骶管内有一个脊膜膨出，无临床神经功能缺损。肛门直肠畸形通过手术得到矫正，她正在口服普萘洛尔治疗皮肤病变，病情有所改善且无并发症。
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