Rehabilitation of a Patient with Proteus Syndrome: Case Report and Literature Review

Proteus Syndrome (PS) is a rare genetic disease that causes asymmetric, disproportionate overgrowth of tissues, particularly bone. PS is caused by a de novo somatic mutation in the AKT1 gene [1]. This single mutation in AKT1, c.49G→A, p.Glu17Lys, causes constitutive activation of the AKT1 protein which underlies the tissue overgrowth and tumor susceptibility in patients with PS [1]. The de novo somatic mutation in AKT1 is responsible for the variety of phenotypic features seen in PS [1]. PS is a rare condition with an estimated prevalence of less than 1 case per million. PS is characterized by the presence of disorganized bone, including hyperproliferation of osteoid causing abnormal bony structure, which results in joint deformity and can result in disability [2].