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[PELVIS/SACRAL syndrome with livedoid haemangioma and amniotic band].
Ann Dermatol Venereol. 2008 Dec; 135(12):855-9.AD

Abstract

BACKGROUND

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.

PATIENTS AND METHODS

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.

DISCUSSION

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.

Authors+Show Affiliations

Service de dermatologie, hôpital Saint-Louis, 1, avenue Claude-Vellefaux, 75010 Paris, France. emmanuelle.bourrat@sls.aphp.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

19084698

Citation

Bourrat, E, et al. "[PELVIS/SACRAL Syndrome With Livedoid Haemangioma and Amniotic Band]." Annales De Dermatologie Et De Venereologie, vol. 135, no. 12, 2008, pp. 855-9.
Bourrat E, Lemarchand-Venencie F, Jacquemont ML, et al. [PELVIS/SACRAL syndrome with livedoid haemangioma and amniotic band]. Ann Dermatol Venereol. 2008;135(12):855-9.
Bourrat, E., Lemarchand-Venencie, F., Jacquemont, M. L., El Ghoneimi, A., Wassef, M., Leger, J., & Morel, P. (2008). [PELVIS/SACRAL syndrome with livedoid haemangioma and amniotic band]. Annales De Dermatologie Et De Venereologie, 135(12), 855-9. https://doi.org/10.1016/j.annder.2008.05.022
Bourrat E, et al. [PELVIS/SACRAL Syndrome With Livedoid Haemangioma and Amniotic Band]. Ann Dermatol Venereol. 2008;135(12):855-9. PubMed PMID: 19084698.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [PELVIS/SACRAL syndrome with livedoid haemangioma and amniotic band]. AU - Bourrat,E, AU - Lemarchand-Venencie,F, AU - Jacquemont,M-L, AU - El Ghoneimi,A, AU - Wassef,M, AU - Leger,J, AU - Morel,P, Y1 - 2008/11/06/ PY - 2008/03/31/received PY - 2008/05/30/accepted PY - 2008/12/17/entrez PY - 2008/12/17/pubmed PY - 2009/3/14/medline SP - 855 EP - 9 JF - Annales de dermatologie et de venereologie JO - Ann Dermatol Venereol VL - 135 IS - 12 N2 - BACKGROUND: 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. PATIENTS AND METHODS: 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. DISCUSSION: 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. SN - 0151-9638 UR - https://www.unboundmedicine.com/medline/citation/19084698/[PELVIS/SACRAL_syndrome_with_livedoid_haemangioma_and_amniotic_band]. L2 - https://linkinghub.elsevier.com/retrieve/pii/S0151-9638(08)00602-9 DB - PRIME DP - Unbound Medicine ER -