[Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria]

Area of Science:

• Medical Genetics
• Vascular Biology
• Urology

Background:

• Proteus syndrome is a rare, sporadic genetic disorder characterized by mosaic overgrowth of various tissues.
• Key diagnostic features include vascular malformations, connective tissue nevi, and epidermal nevi.
• Vascular malformations are common but typically involve the gastrointestinal or spleen, with bladder involvement being exceptionally rare.

Observation:

• A 12-year-old boy with diagnosed Proteus syndrome presented with a rare bladder vascular malformation.
• This case represents an unusual manifestation of vascular involvement in the urinary tract within the context of Proteus syndrome.

Findings:

• The study reports a unique case of bladder vascular malformation in a patient with Proteus syndrome.
• A review of existing literature on bladder malformations and tumors associated with Proteus syndrome was conducted.

Implications:

• This case expands the known spectrum of Proteus syndrome manifestations, particularly concerning urogenital involvement.
• Understanding rare presentations like bladder vascular malformations is crucial for accurate diagnosis and management of Proteus syndrome.
• Further research into the specific mechanisms driving vascular anomalies in Proteus syndrome is warranted.