Cohen M Michael
Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
Clin Genet. 2014 Feb;85(2):111-9. doi: 10.1111/cge.12266. Epub 2013 Oct 23.
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 in early life, consisting of acanthosis and hyperkeratosis; (v) vascular malformations of the capillary, venous, or lymphatic types; (vi) dysregulated adipose tissue including lipomas, lipohypoplasia, fatty overgrowth, and localized fat deposits; (vii) other unusual features, including bullous lung alterations; specific neoplasms; a facial phenotype associated with intellectual disability and/or seizures, and/or brain malformations; and (viii) deep vein thrombosis, resulting in premature death. Concluding remarks address diagnostic criteria, natural history, management, psychosocial issues, and differential diagnosis.
普洛透斯综合征由激活的AKT1突变（c.49G>A，p.Glu17Lys）引起。在这种嵌合性疾病中可能出现许多可变特征，包括：（i）不成比例、不对称且扭曲的过度生长；（ii）不同于其他疾病中观察到的骨骼异常；（iii）由高度胶原化的结缔组织构成的特征性脑回状结缔组织痣；（iv）早年出现的表皮痣，由棘皮症和角化过度组成；（v）毛细血管、静脉或淋巴管类型的血管畸形；（vi）脂肪组织失调，包括脂肪瘤、脂肪发育不全、脂肪过度生长和局部脂肪沉积；（vii）其他异常特征，包括大疱性肺改变；特定肿瘤；与智力残疾和/或癫痫发作和/或脑畸形相关的面部表型；以及（viii）深静脉血栓形成，导致过早死亡。结语部分讨论了诊断标准、自然病史、管理、心理社会问题和鉴别诊断。
