Progress in Diagnosis and Treatment of Proteus Syndrome

Abstract

Proteus syndrome is a rare congenital hamartomatous syndrome characterized by the asymmetric and disproportionate overgrowth of limbs, emergence of connective tissue nevi, epidermal nevi, ysregulated adipose tissue, and vascular malformations. The Proteus syndrome is caused by mosaicism of somatic activating mutation in the AKT1 gene which locates at chromosome 14q32.3. This syndrome is extremely rare, making it difficult to diagnose. The most commonly used diagnostic criteria are too complicated to be used in clinical practice. Surgery can partially alleviate the clinical symptoms of overgrowth, but it can't inhibit the progression of the disease. This article summarizes the diagnostic criteria, treatment principles, and perioperative managements for Proteus syndrome in the world. The article proposes the highly suspected morphological manifestations of Proteus syndrome was based on clinical experiences of the author.The article emphasizes using genetic detection of pathological tissue as the gold standard for diagnosis, and suggests targeted therapy as the optimal treatment for Proteus syndrome.

Keywords

• proteus syndrome
• akt1 gene
• diagnosis
• treatment