Proteus syndrome review: molecular, clinical, and pathologic features.

Abstract excerpt

Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi...

Topics

• Diagnosis, Differential
• Humans
• Lipoma
• Mutation, Missense
• Phenotype
• Proteus Syndrome
• Proto-Oncogene Proteins c-akt