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PELVIS Syndrome.

Céline Girard1, Michèle Bigorre, Bernard Guillot

  • 1Department of Dermatology, Hôpital Saint-Eloi, Centre Hospitalier Régional Universitaire, Montpellier, France. celine-girard@chu-montpellier.fr

Archives of Dermatology
|July 19, 2006
PubMed
Summary
This summary is machine-generated.

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Large perineal hemangiomas are linked to congenital defects. These cases suggest a distinct syndrome, PELVIS syndrome, characterized by specific malformations affecting multiple organ systems.

Area of Science:

  • Medical research
  • Pediatric surgery
  • Genetics

Background:

  • Large perineal hemangiomas can indicate underlying congenital anomalies.
  • These anomalies frequently involve the anorectal, urinary, spinal, and external genitalia regions.

Observation:

  • Two infants presented with large sacral and perineal hemangiomas.
  • One infant had ambiguous genitalia, while the other had urinary tract malformations and imperforate anus.
  • These cases were analyzed alongside nine previously reported similar cases.

Findings:

  • Large perineal hemangiomas may represent a distinct syndrome.
  • This syndrome is associated with anorectal, neurological, renal/urinary tract, and genital defects.
  • The proposed acronym PELVIS syndrome highlights key features: Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag.

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Implications:

  • Recognition of PELVIS syndrome is crucial for comprehensive diagnosis and management.
  • Early identification can lead to timely intervention for associated anomalies.
  • This syndrome underscores the importance of a multidisciplinary approach in managing complex pediatric cases.