摘要
一个常染色体显性遗传病家系,所有患者均表现为手足背侧及腔口周围固定性红斑角化皮损,随年龄增长逐渐自愈,无其它系统症状。皮损病理显示:表皮过度角化、棘层肥厚,伴有局部角化不全及真皮浅层轻微血管周围淋巴细胞浸润。外周血基因组DNA检测结果:携带TRPM4基因c.3119T>C杂合错义突变。诊断:进行性对称性红斑角化症。
All the patients in an autosomal dominant pedigree presented erythematous hyperkeratotic plaques on the dorsal aspect of their distal extremities and the periorificial areas.The lesions were stationary and spontaneously relieved after puberty.No other systemic symptoms have been otherwise found.Histopathology of the lesional skin demonstrated hyperkeratosis,acanthosis,with focal parakeratosis and mild perivascular lymphocytic infiltration in the superficial dermis.Mutation analysis of the patients’peripheral blood genomic DNA revealed heterogeneous missense mutations of c.3119 T>C in TRPM4 gene.The patients were diagnosed with progressive symmetric erythronkeratodermia.
作者
汪慧君
林志淼
WANG Huijun;LIN Zhimiao(Department of Dermatology,Peking University First Hospital,Beijing Key Laboratory of Molecular Diagnosis on Dermatoses,National Clinical Research Center for Skin and Immune Diseases,Beijing 100034,China)
出处
《皮肤科学通报》
2020年第1期26-30,共5页
Dermatology Bulletin
基金
国家自然科学基金面上项目(81573032)。
关键词
红斑角化
单基因遗传病
基因突变
Erythrokeratodermia
Monogenetic disorder
Gene mutation
