PELVIS and LUMBAR syndromes

What is PELVIS syndrome?

PELVIS syndrome is a an association between segmental infantile haemangiomas of the perineum (around the genitals and anus) and congenital anomalies involving the genitalia, urinary tract, spine, anus, and rectum.

The acronym PELVIS was proposed in 2006 by Dr. Celine Girard and colleagues.[1] It stands for:

• Perineal haemangioma
• External genitalia malformations
• Lipomyelomeningocele
• Vesicorenal abnormalities
• Imperforate anus
• Skin tag

Another group has recently proposed the acronym LUMBAR to describe a collection of similar signs where the hallmark feature is a segmental lumbosacral haemangioma over the middle of the lower back.[2]

• Lower body hemangioma and other cutaneous defects
• Urogenital anomalies, ulceration
• Myelopathy
• Bony deformities
• Anorectal malformations, arterial anomalies
• Renal anomalies

There are similarities between LUMBAR and PELVIS syndromes and PHACE syndrome, which may suggest they are regional variations of the same pathological process.

How is PELVIS syndrome diagnosed?

Currently, there are no standardised diagnostic criteria or consensus on the collection of signs required to make a diagnosis of PELVIS syndrome. However, the presence of a segmental haemangioma over the perineum and/or lower back should lead to a search for associated congenital anomalies.

What investigations are required?

Investigations may include:

• Magnetic resonance imaging (MRI) of the spine to look for congenital spinal dysraphism.
• Ultrasonography can be used in young infants if there is no ulceration, neurological problem or sinus tracts.
• Imaging of the pelvis and perineum to detect deeper haemangiomas and underlying abnormalities of the kidney, urinary tract and genitalia.

What is the treatment?

Each child has a unique clinical presentation and will require individual treatment.

Medical care of the infant will be undertaken by a multidisciplinary team that may include plastic surgeon, paediatric urologist, paediatric dermatologist, radiologist, neurosurgeon, and neurologist.

• Treatment for the haemangioma may involve oral propranolol, systemic steroids, surgery and/or laser therapy.
• Surgery for the correction of the associated malformations (such as lipomyelomeningocoeles, vesicorenal abnormalities, external genital malformations) may be indicated.