Friday 25 July 2003 Definition: Proteus syndrome is a rare,
sporadic disorder that causes postnatal overgrowth of multiple
tissues in a mosaic pattern. A mosaic activating mutation in
AKT1 is associated with the Proteus syndrome. (#21793738#)
Characteristic manifestations include: overgrowth and
hypertrophy of limbs and digits, connective tissue nevus,
epidermal nevus and hyperostoses. Various benign and malignant
tumors and hamartomas may complicate the clinical course of
patients with the syndrome. Proteus syndrome is a highly
variable, severe disorder of asymmetric and disproportionate
overgrowth of body parts, connective tissue nevi, epidermal
nevi, dysregulated adipose tissue, and vascular malformations.
Many features of Proteus syndrome overlap with other overgrowth
syndromes. The disorder might be confused with the Klippel-
Trenaunay-Weber syndrome (MIM.149000) and with Ollier disease
and Maffucci syndrome (MIM.166000). PTEN-associated Proteus-like
syndrome Some authors (Zhou et al., 2000, 2001; Smith e