Bourrat E, Lemarchand-Venencie F, Jacquemont M-L, El Ghoneimi A, Wassef M, Leger J, Morel P
Service de dermatologie, hôpital Saint-Louis, 1, avenue Claude-Vellefaux, 75010 Paris, France.
Ann Dermatol Venereol. 2008 Dec;135(12):855-9. doi: 10.1016/j.annder.2008.05.022. Epub 2008 Nov 6.
PELVIS or SACRAL syndrome denotes the association of local haemangioma and malformation in the pelvic region. In this paper, we report a case noteworthy on account of the initially livedoid appearance of the haemangioma as well as associated amniotic banding of an upper limb.
A newborn male infant underwent left colostomy on the day of birth due to anal imperforation and anomalies of the external genital organs with sexual ambiguity. Examination of the skin and appendages revealed poorly delineated hypopigmentation in the sacrolumbar region and a fibrous groove around the right arm characteristic of amniotic band syndrome. Sacrolumbar and pelvic MRI scans revealed deviation towards the left of the last three sacral vertebrae with no medullary anomalies. Retrograde cystography showed a recto-uretral fistula. Progression of the infant's condition was marked by the appearance during the first month of a flat, violaceous, angiomatous, livedoid lesion in the middle of the buttocks and the perineum and a linear lesion on the rear aspect of the right lower limb. The skin biopsy of this lesion revealed a single capillary lobule at the dermal-hypodermal junction of non-specific appearance but with marked Glut1 expression by endothelial cells highly evocative of infantile haemangioma.
Segmented haemangiomas are commonly associated with extracutaneous abnormalities. By analogy with PHACE syndrome, defined as association of segmented facial haemangioma with cerebral, ocular and cardio-aortic abnormalities, PELVIS/SACRAL syndrome denotes the association of segmented haemangioma of the loins (sacrolumbar region, buttocks or perineum=napkin haemangioma) with spinal dysraphia affecting the sacrolumbar spine, the terminal medullary cone, the genitourinary organs and the anal region to different degrees. Diagnosis of haemangioma associated with PELVIS/SACRAL syndrome may be delayed or complicated due to the macular, telangiectasic or livedoid appearance commonly seen. To our knowledge, there have been no reports to date of an association of amniotic banding with haemangioma or perineal dysraphia.
骨盆或骶骨综合征指骨盆区域局部血管瘤与畸形并存。本文报告一例值得关注的病例，该病例中血管瘤最初呈现为类紫癜样外观，且伴有上肢羊膜带综合征。
一名男婴因肛门闭锁及外生殖器异常伴性征模糊，于出生当日接受了左结肠造口术。皮肤及附属器检查发现，腰骶部色素减退界限不清，右臂周围有一条纤维沟，具有羊膜带综合征特征。腰骶部及骨盆磁共振成像扫描显示，最后三节骶椎向左偏移，无脊髓异常。逆行膀胱造影显示直肠尿道瘘。婴儿病情进展的标志是，在出生后第一个月，臀部中部和会阴出现一个扁平、紫红色、血管瘤样、类紫癜样病变，右下肢后侧出现一条线状病变。该病变的皮肤活检显示，在真皮-皮下交界处有一个单一的毛细血管小叶，外观无特异性，但内皮细胞有明显的Glut1表达，高度提示婴儿血管瘤。
节段性血管瘤常与皮肤外异常相关。与PHACE综合征（定义为节段性面部血管瘤与脑、眼及心血管主动脉异常并存）类似，骨盆/骶骨综合征指腰部节段性血管瘤（腰骶部、臀部或会阴=尿布区血管瘤）与不同程度影响腰骶椎、终丝圆锥、泌尿生殖器官及肛门区域的脊柱裂并存。由于常见的斑状、毛细血管扩张性或类紫癜样外观，与骨盆/骶骨综合征相关的血管瘤诊断可能会延迟或复杂化。据我们所知，迄今为止尚无羊膜带与血管瘤或会阴发育不全相关的报道。
