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

Share this publication in a Topic to start or enrich a Post.

• Share to Diagnosis, Differential
• Share to AKT1 gene
• Share to Lipoma