Proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. Characteristic manifestations include: overgrowth and hypertrophy of limbs and digits, connective tissue nevus, epidermal nevus and hyperostoses. Various benign and malignant tumors and hamartomas may complicate the clinical course of patients with the syndrome.

Synopsis

 Growth

• asymmetric overgrowth
• increased stature
• macrocephaly

 Skin & subcutaneous tissue

• thickening
• nevi
• lipomata
• lymphangiomata
• hemangiomata

 Skeletal : hemihypertrophy, bony prominences over skull, angulation defects of knees, scoliosis

 Hands & feet : macrodactyly, soft tissue hyper-trophy, which may appear as gyriform

Tumoral predisposition

 hemangiomas
 lymphangiomas
 lipomas
 tumors of the genital tract

• bilateral ovarian cystadenomas
• bilateral paraovarian villoglandular endometrioid cystadenomatous tumors of borderline malignancy of the broad ligament (#11850547#)

Etiology

 germline mutation in the tumor suppressor gene PTEN (MIM.601728)