A congenital syndrome characterised by a variety of abnormalities, most commonly by asymmetry of the arms and legs with partial enlargement of the hands and/or feet, hemihypertrophy - overgrowth of one side of the face, body, or limbs - thickening of the skin and subcutaneous tissues, subcutaneous masses, vascular disorders, epidermal naevi, and macrodactyly; accelerated growth during early years, cystiform pulmonary abnormalities, visceral manifestations from abdominal and pelvic lipomatosis, macrocephaly or asymmetry of the skull with bony prominences due to hemihypertrophy, scoliosis and kyphosis, muscle atrophy, and convulsions.
Aetiology unknown. Reported cases have been isolated occurrences in families, suggesting that the condition is not hereditary. It affects both sexes equally, and has no particular racial, geographical or ethnic distribution.
It is probable that Proteus Syndrome is the condition Joseph Merrick (known as the Elephant Man) had, rather than neurofibromatosis, as was initially suggested.
The condition must be distinguished from Mafucci’s syndrome (chondrodystrophy with vascular hamartoma), Klippel-Trénaunay-Weber syndrome (osteohypertrophic-varicose nevus syndrome) and von Recklinghausen disease (neurofibromatosis syndrome).
- H.-R. Wiedemann, G. R. Burgio, P. Aldenhoff, J. Kunze, H. J. Kaufmann, E. Schirg:
The Proteus syndrome. Partial gigantism of the hands and feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affection.
European Journal of Pediatrics, Berlin, 1983, 140: 5-12.