Proteus Syndrome – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2023 To 2033

Proteus syndrome (PS) is an exceptionally rare and intricate disorder characterized by excessive growth in the skeletal, skin, adipose tissue, and central nervous system. Causal mutations for PS have been identified in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT signaling pathway: PTEN, linking PS to the PTEN Hamartoma Tumor Syndrome (PTHS), and AKT1. The AKT1 mutation is typically a somatic mosaic mutation, found in 1-47% of cases. Newborns with PS usually appear normal at birth. Symptoms typically manifest between 6 and 18 months of age and often involve asymmetric overgrowth, primarily in the hands or feet. Macrodactyly, characterized by abnormally large digits, is the most common initial symptom, often accompanied by hemihypertrophy. Skeletal overgrowth can progress rapidly, resulting in irregular, distorted, and calcified growth in the tubular bones of the limbs, skull, and vertebral bodies. Diagnosing PS relies on specific clinical criteria. To establish a...