Proteus syndrome: A rare cause of gigantic limb.

[proteus syndrome]

A congenital disorder with variable manifestations , including partial gigantism of the hands and feet with hypertrophy of soles , nevi , hemihypertrophy , gynecomastia , macrocephaly and other skull abnormalities , and abdominal lipomatosis . The cause is unknown , although a genetic origin , generally of autosomal-dominant transmission , has been conjectured . Symptoms can be treated , but there is no known cure . We present the case of a young male with grotesque overgrowth of the right lower limb , splenomegaly and multiple nevi . Angiography revealed venous malformation within the limb . The findings are in conformity to the criteria for the Proteus syndrome .

Diseases
Validation

Diseases presenting "nevi" symptom

benign recurrent intrahepatic cholestasis

child syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

lamellar ichthyosis

oculocutaneous albinism

proteus syndrome

This symptom has already been validated