What Is Proteus Syndrome

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Proteus syndrome is an exceedingly rare, probably genetic condition that causes unusual and usually asymmetric growth of most structural tissues of the body. The name was coined by German pediatrician Has Rudolf Wiedemann in reference to four unrelated cases in 1979; the minor Greek god Proteus could presumably change his appearance at will, just as the disease took on four very different appearances in each of the four cases.

The relative fame of the very uncommon disease (which affects perhaps 120 people worldwide today) owes itself to the Broadway play and 1981 David Lynch movie "The Elephant Man", which told the story of John (Joseph) Merrick, a patient with the condition in the late 19th century. Until more recently, the condition not being known, it was thought that Merrick suffered perhaps from neurofibromatosis, a nervous disorder involving abnormal tumor growth, and even before that elephantiasis, a parasitic infection of the lymph nodes that still bears his namesake. Proteus syndrome, like these two diseases, displays symptoms including:

  • Abnormal enlargement of body parts
  • Darkening and roughening of the skin
  • Appearance of tumors under the skin
  • Differences in symptoms result largely from actual growth abnormalities, not just the presence of unusual tumors. The skull, bones, and joints may grow abnormally and meet in unwanted and often painful ways--the head of a victim of Proteus syndrome is characteristically very large, far beyond the size of a healthy adult.

    The characteristics of "mosaic", a term used to describe the overlapping of genetically distinct tissues in an organism are considered mandatory to the diagnosis of Proteus syndrome and are generally rare in other disorders. The disease is, however, much as its namesake would suggest, amorphous--in order to diagnose the disease fully one must consult a chart which lists numerous specific abnormalities which may or may not occur in patients.

    Cause of Proteus Syndrome

    The cause of proteus is largely unknown. Its rarity has not necessitated large-scale research, though its infamy from the John Merrick case has led to some recent interest. It is thought that the causes may be genetic, though no clear display of heritability is given and there is no clear indication of what gene it may involve. There is speculation that the cause may be mutative and likely occurs during initial fetal development.

    Treatment of Proteus Syndrome

    Treatments for proteus syndrome are extremely limited, and almost exclusively involve pain management. Surgery may be required to lessen pressures and to remove tumors, but mostly those afflicted with the condition are left simply to weather the pain with drugs, therapy, and other basic treatments.

    Proteus syndrome, as with most conditions which involve large-scale growth dysfunction, drastically shortens the life-span of most afflicted individuals. Merrick lived 28 years and had excellent health care in the later days of his life--many patients will not be able to afford such things, as the condition is not central to any particular part of the world. The degree of physical abnormality varies greatly with the disease, but many do not live through adolescence.