Multidisciplinary approach to the management of Proteus syndrome: literature review on its congenital and multisystemic manifestations
Keywords:
ANOMALÍAS CONGÉNITAS; ENFERMEDADES GENÉTICAS CONGÉNITAS; ENFERMEDADES RARAS; SÍNDROME DE PROTEO.; CONGENITAL ABNORMALITIES; GENETIC DISEASES, INBORN; RARE DISEASES; PROTEUS SYNDROME.; ANORMALIDADES CONGÊNITAS; DOENÇAS GENÉTICAS INATAS; DOENÇAS RARAS; SÍNDROME DE PROTEU.Abstract
Introduction: Proteus syndrome is an extremely rare congenital disease characterized by excessive and heterogeneous tissue growth, posing a clinical and therapeutic challenge for healthcare teams.
Objective: to analyze the available scientific evidence in order to describe the clinical manifestations, diagnosis, and multidisciplinary management strategies of Proteus syndrome.
Methods: a systematic review of the scientific literature was conducted across various databases. The search was performed using an algorithm with keywords and Boolean operators, allowing the identification of relevant sources. Selected studies, after applying inclusion and exclusion criteria, were critically analyzed considering timeliness, methodological quality, and thematic relevance, and integrated into the final synthesis of the review.
Development: the findings highlight the clinical heterogeneity of the syndrome, with cutaneous, osseous, vascular, and neurological involvement. The somatic mutation in the AKT1 gene explains tissue overgrowth and opens therapeutic perspectives targeting the PI3K/AKT/mTOR pathway. Nursing plays an essential role in early detection, education, and emotional support, within teams that include geneticists, surgeons, physiotherapists, and psychologists. The need for standardized protocols and international cooperation to improve diagnosis and treatment is emphasized.
Conclusions: a multidisciplinary approach is indispensable to optimize the management of Proteus syndrome. Nursing is consolidated as a central axis in comprehensive care, while genetic advances offer new therapeutic possibilities. The rarity of the disease demands global collaboration and ongoing research to strengthen diagnostic and therapeutic strategies.
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