Open AccessProteus syndrome: A rare cause of gigantic limb
Author(s) -
N.B. Chakrabarti,
Chandan Chattopadhyay,
Bhuban Majhi,
Sankar K. Pal
Publication year - 2014
Publication title -
indian dermatology online journal
Language(s) - English
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/2229-5178.131108
Subject(s) - proteus syndrome , hemihypertrophy , gigantism , medicine , gynecomastia , macrocephaly , lipomatosis , venous malformation , klippel trenaunay syndrome , dermatology , congenital disorder , deformity , anatomy , surgery , pediatrics , soft tissue
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.