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Proteus Syndrome

Proteus Syndrome. By: 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

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Proteus Syndrome

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  1. Proteus Syndrome By: Aislin Anderson Leah Oswald

  2. 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)

  3. 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)

  4. Causes • Unknown at this time • However, it is a genetic mutation • Not hereditary

  5. Location of defective gene • Location of gene unknown due to lack of information

  6. 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)

  7. Examples • Surgery when: • Spinal cord is being crushed • Lungs are collapsing • Heart failure • Tumors consume body

  8. Pedigree chart-the Kings John Barbara Mary Patrick Caroline

  9. Impact of disease on patient Emotional • 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) Physical

  10. Impact of disease on family Emotional • 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 Physical

  11. Impact of disease on society Emotional • Repulsed/Horror • Shock • Pity • Confusion • Thinks down upon person with P.S. • Fright • Avoidance of patient • Staring Physical

  12. 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

  13. 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.

  14. 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”

  15. 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

  16. Bibliography • Barbara King • http://www.proteus-syndrome.org/ • http://emedicine.medscape.com/article/948174-overview • 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+syndrome • Goggle images

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