Proteus SyndromeBy: Aislin Anderson
Leah Oswald
Symptoms Overgrowth, asymmetry, and
gigantism of the limbs Increased size of an organ, or the body,
or bones(hypertrophy). Raised rough skin Deep lines and overgrowth of soft
tissue on the soles of the feet (cerebriform connective tissue nevus)
Symptoms continued Patches of overgrown blood or lymphatic
vessels (vascular malformations) Local overgrowth of fat (lipomas) or
undergrowth of fat Various tumors are more common in
patients with Proteus Syndrome, but most are benign
Deep venous thromboses (blood clots) and the lodging of blood clots in the lungs (can be life threatening)
Causes Unknown at this time However, it is a genetic mutation Not hereditary
Location of defective gene Location of gene unknown due to lack
of information
Advances in Quality of Life There is no “true” medicine or
treatment for P.S. that works for all cases
Treatment is individual due to the syndromes diversity
Surgery is available for removal of pain due to tumors or if the syndrome is life threatening(which most often it is)
Examples Surgery when:
Spinal cord is being crushedLungs are collapsingHeart failureTumors consume body
Pedigree chart-the Kings
John Barbara
Mary Patrick Caroline
Impact of disease on
patient
Emotional
Physical
Day to day basis Extremely turbulent Very scared Hard on kids
teased, stared at depends on child anger or humor
Tumors Do not fit into society’s “norm” Organ failure Amputation Over/Undergrowth of skin Blood clots (heart attacks)
Impact of disease on
family
Emotional
Physical Mentally draining Day to day basis Paranoia Common questions:
“Did I do this to them?” “What did I do to deserve this?”
Common emotions: Shock Anger Denial
Exhaustion Depression
Impact of disease on
society
Emotional
Physical
Repulsed/Horror Shock Pity Confusion Thinks down upon person with P.S. Fright
Avoidance of patient Staring
A Personal Story Barbra and John King Memphis, TN Son, Patrick, diagnosed with P.S. in
1997 when he was 1.5 years old They had a daughter, Mary, 7.5 years
old-she did not have P.S. Family’s life style was turned around Try to find doctors to help Patrick
Story continued The King’s were in shock, but not
denial “Did I do this?” Patrick was the 13th documented case
in the world Found very little help
Most doctors didn’t even know about P.S.-and still don’t.
Story continued Patrick was developmentally delayed He could speak, but only in fragments Did not comprehend that he had a
deadly syndrome-that he was unique The only words John and Barbara
understood when doctors talked were “death and amputation”
Story continued-doctor Michael Cohan discovered Proteus
Syndrome Barbara and John became friends with
people Cohan worked with- desperately trying to help their son
Patrick died when he was 5 years old in his sleep in 2002
He had a sister he never knew named Caroline-she knows him through pictures only
Bibliography Barbara King http://www.proteus-syndrome.org/ http://emedicine.medscape.com/article/948174-o
verview http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi
?id=176920 http://www.kumc.edu/gec/support/protwww.html http://www.angelfire.com/nd2/proteus.syndrome/
symptoms.html http://www.facesaerch.com/face/proteus+syndro
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