PELVIS Syndrome

Abstract

Background: Large perineal hemangiomas can be associated with congenital anomalies, including anorectal, urinary tract, spine, and external genitalia malformations. Observations: We describe 2 infants with large sacral and perineal hemangiomas, with severe malformation of the external genitalia with ambiguous genitalia in one case and urinary tract malformations and imperforate anus in the other case. These cases are discussed, along with 9 previously reported cases with similar findings. Conclusions: Large perineal hemangiomas may constitute a distinctive group of associated anorectal, neurologic, renal or urinary tract, and genital defects. We propose the acronym PELVIS syndrome to emphasize the characteristic findings of this syndrome: perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag.

Infantile Hemangiomas: A Disease Model in the Study of Vascular Development, Aberrant Vasculogenesis and Angiogenesis

“…Other conditions in which IH is associated with underlying structural defects include the well-described association of segmental lumbosacral hemangiomas with a tethered spinal cord, genitourinary anomalies, or both. Additionally, PELVIS syndrome (Perineal hemangioma-External genitalia malformations-Lipomyelomeningocele-Vesicorenal abnormalities-Imperforate anus-Skin tag) is similar to PHACES in that it too features a large hemangioma over an area with underlying structural and vascular aberrencies (Girard, Bigorre et al 2006). In the case of PELVIS syndrome, patients present with a large segmental perineal hemangioma not localized to specific dermatomes.…”

Hämangiome. Neue Aspekte zu Pathogenese, Differenzialdiagnosen und Therapie

“…Das PELVISSyndrom umschreibt die Assoziation von perinealen Hämangio men, externen genitalen Fehlbildungen, Lipomyelomeningozelen, vesikorena len Anomalien, Anus imperforatus und "skin tags" (Hautanhängseln) [7]. Ähn liche Assoziationen werden in dem Ak ronym SACRALSynrom ("spinal dysra phism, anogenital, cutaneous, renal and urological anomalies") zusammengefasst (.…”

Infantile hemangiomas: from pathogenesis to clinical features

“…Hemangiomas involving the parotid gland may cause deformity of adjacent structures due to massive growth and, rarely, high-output congestive heart failure. 37,38 PHACES is a neurocutaneous syndrome associated with facial segmental IH, which consists of the following features: Posterior fossa brain malformations, segmental cervicofacial Hemangioma, Arterial anomalies, cardiac defects or Coarctation of the aorta (most often the transverse aorta), Eye anomalies, and Sternal defects (such as sternal clefting or supraumbilical raphe). 39 Diagnostic criteria for PHACES have been developed recently and are detailed elsewhere.…”