PELVIS syndrome
PELVIS syndrome is a rare medical condition characterized by Perineal Hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. The syndrome is named after the first letters of these conditions.
Symptoms and Signs[edit | edit source]
The symptoms of PELVIS syndrome vary depending on the specific abnormalities present. The most common symptoms include:
- Perineal Hemangioma: A hemangioma is a benign tumor made up of blood vessels. In PELVIS syndrome, these tumors are located in the perineal area, which is the area between the anus and the genitals.
- External genitalia malformations: This can include a variety of abnormalities, such as hypospadias (where the urethra opens on the underside of the penis), epispadias (where the urethra opens on the top of the penis), or ambiguous genitalia.
- Lipomyelomeningocele: This is a type of spina bifida, where a part of the spinal cord protrudes through the spine and into the skin. In PELVIS syndrome, this protrusion is often accompanied by a fatty tumor.
- Vesicorenal abnormalities: These can include a variety of kidney and bladder abnormalities, such as vesicoureteral reflux (where urine flows backwards from the bladder into the kidneys), hydronephrosis (swelling of the kidneys due to a build-up of urine), or renal agenesis (where one or both kidneys fail to develop).
- Imperforate anus: This is a birth defect where the opening to the anus is missing or blocked.
- Skin tag: These are small, benign growths of skin.
Diagnosis[edit | edit source]
Diagnosis of PELVIS syndrome is based on the presence of the above symptoms. Imaging tests such as ultrasound, MRI, or CT scan may be used to confirm the diagnosis and assess the severity of the condition.
Treatment[edit | edit source]
Treatment of PELVIS syndrome is focused on managing the symptoms and improving the quality of life for the individual. This may include surgery to correct physical abnormalities, medication to manage symptoms, and physical therapy to improve mobility and function.
See Also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
