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Proteus Syndrome
Transcript
Proteus Syndrome
What is Proteus Syndrome?
Boy with Proteus Syndrome
Overgrown Skull
- Causes Overgrowth
- Asymmetric
History
- Mosaic Alteration in
AKT1
Elephant Man's skeleton
Elephant Man
- Described by Samia Temtany in 1976
- Most Notable Case is Joseph
Merrick
Diagnosis
Mosaic Distribution
Areas of the Body That can be Affected by Proteus Syndrome
- Diagnostic Criteria
- Mosaic Distribution
- Sporadic Occurrence
- Progressive Course
Treatments
What a Dermatologist Would Look At
Rapamycin
- Doctors like a dermatologist,
psychiatrist, pulmonologist,
physical/occupational therapists,
pedorthist, and a hematologist
Some Interesting Facts
- Rapamycin
Proteus the Greek God
Signs & Symptoms
Little Kid with Proteus Syndrome
Skin Growth
- Newborns show few signs
- Cerebriform Connective
Tissue Nevus
- Neurological Abnormalities
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