变形综合征1例

Proteus Syndrome

本文报道一例患者男,4岁,自幼出现右足底皮肤脑回状增生,伴右侧下肢肢体发育异常,较左侧延长;左侧大腿外侧可见大片境界清楚的不规则红斑,压之不褪色。右足底皮损组织病理示表皮角化过度,皮突变平,真皮内胶原纤维组织增生致密,呈束状排列。局部组织基因检测结果提示AKT1基因突变。诊断为变形综合征。本篇对此病进行简要综述,以供开阔临床相似患者的诊疗思路。

A four-year-old male patient developed a right plantar cerebriform connective tissue since he was born,accompanied by abnormal development of the right limb,which was longer than the left side.A large area of irregular erythema with clear borders could be seen on the left side of the thigh.The histopathology of the right plantar lesion showed hyperkeratosis,and thickened collagen fibers arranged in bundles in the dermis.Local tissue gene test showed mutated gene.The diagnosed was performed.This article provides a brief review of Proteus syndrome.