He Min, Zhao Weijia
Department of Dermatology, The 59th Central Hospital of the People's Liberation Army, Kaiyuan, Yunnan 661699, P.R. China.
Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China.
Exp Ther Med. 2020 Sep;20(3):2716-2720. doi: 10.3892/etm.2020.8986. Epub 2020 Jul 10.
Proteus syndrome (PS) is an extremely rare and sporadic disorder characterized by asymmetric and/or disproportionate overgrowth of limbs, hamartomas, and vascular malformations. The onset of overgrowth usually involves the skin, bone, fat, and other connective tissues in a patchy or mosaic pattern. Partial gigantism of the affected limb or digit is a pathognomonic sign of PS. Thus far, only a few cases of PS have been recorded in the literature. In the present report, a case of PS in a 35-year old woman with classic cerebriform plantar hyperplasia and macrodactyly of the left foot was documented. The clinical and molecular characteristics and differential diagnosis of PS are also discussed in this report.
变形综合征(PS)是一种极其罕见的散发性疾病,其特征为肢体不对称和/或不成比例的过度生长、错构瘤和血管畸形。过度生长通常以斑片状或镶嵌式累及皮肤、骨骼、脂肪和其他结缔组织。受累肢体或指(趾)的部分巨人症是PS的一个特征性体征。迄今为止,文献中仅记录了少数几例PS病例。在本报告中,记录了一名35岁女性患有典型脑回状足底增生和左足巨趾症的PS病例。本报告还讨论了PS的临床和分子特征以及鉴别诊断。