Proteus syndrome of the foot: A case report and literature review

被引:5
|
作者
He, Min [1 ]
Zhao, Weijia [2 ]
机构
[1] 59th Cent Hosp Peoples Liberat Army, Dept Dermatol, Kaiyuan 661699, Yunnan, Peoples R China
[2] Kunming Med Univ, Dept Dermatol, Affiliated Hosp 1, 295 Xichang Rd, Kunming 650032, Yunnan, Peoples R China
关键词
proteus syndrome; overgrowth; hyperplasia; mosaicism; DIAGNOSTIC-CRITERIA; GERMLINE MUTATION; PTEN; PATIENT; NEVUS;
D O I
10.3892/etm.2020.8986
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
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.
引用
收藏
页码:2716 / 2720
页数:5
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