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)