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Proteus Syndrome 

Proteus Syndrome
Chapter:
Proteus Syndrome
Author(s):

Leslie G. Biesecker

DOI:
10.1093/med/9780199934522.003.0220
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date: 25 February 2021

Proteus syndrome is a very rare mosaic overgrowth disorder that can affect most any tissue of the body, most commonly the skin, skeleton, vascular system, and adipose tissue. Most manifestations of Proteus syndrome are postnatal, with typical onset of overgrowth in the 6-24 month age range with relentless and distorting overgrowth that often abates at the end of puberty. This overgrowth can be mild, but more often causes major orthopedic and vascular complications. To date, all patients with Proteus syndrome have the same c.49G>A p.Glu17Lys somatic mosaic mutation in AKT1, with the mutation level ranging from <1% to almost 50% (nearly non-mosaic heterozygous). This mutation leads to constitutive activation of the transmembrane receptor-PIK3CA-AKT signal transduction cascade, which explains many of the manifestations of this disorder as the pathway transduces numerous growth factor signals.

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