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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