患者女,38岁,面部四肢躯干色素减退斑15年,加重3年.皮肤科检查:面部、四肢及躯干多发色素减退斑,下肢伸侧、胸部可见色素沉着斑.皮损组织病理:部分真皮乳头增宽,可见嗜酸性均质样团块沉积,真皮浅层血管周围淋巴组织浸润,其间散在个别嗜色素细胞.刚果红染色可疑阳性.血液样本基因检测检测:具有GPNMB基因突变.诊断:色素异常性皮肤淀粉样变.
A 38 year old female patient presented with hypopigmentation spots on her limbs,trunk and face for 15 years and aggravated for 3 years.Dermatological examination showed multiple hypopigmentation spots on the face,limbs and trunk,and pigmentation spots on the extended sides of lower limbs and chest.Histopathological examination showed part of dermal papilla widened,while eosinophilic homogeneous mass depositions were observed.Lymphocytes and histocytes infiltrated around the superficial dermis vessels,and individual melanocytes were scattered among them.Congo red staining showed suspicious positive result.Genetic testing of blood samples revealed a mutation in the GPNMB gene.The diagnosis of amyloidosis cutis dyschromica was made.