毛囊角化病ATP2A2基因突变二例及家系调查  

Two cases of Darier′s disease:ATP2A2 gene mutation analysis and a family survey

作　　者：李建国 王建波 邵依 窦进法 李明[2] 张守民 李振鲁 Li Jianguo;Wang Jianbo;Shao Yi;Dou Jinfa;Li Ming;Zhang Shoumin;Li Zhenlu(Department of Dermatology,Henan Provincial People′s Hospital,People′s Hospital of Zhengzhou University,People′s Hospital of Henan University,Zhengzhou 450003,China;Department of Dermatology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200082,China)

机构地区：[1]河南省人民医院郑州大学人民医院河南大学人民医院皮肤科,郑州450003 [2]上海交通大学医学院附属新华医院皮肤科,200082

出　　处：《中华皮肤科杂志》2020年第9期718-720,共3页Chinese Journal of Dermatology

基　　金：河南省医学科技攻关计划省部共建项目(SB201904011)。

摘　　要：例1男,16岁,面部、颈部及双腋下见密集褐色毛囊角化性丘疹,部分融合成斑块,局部可见疣状增生;母亲与其有相似的病史及临床表现。例2男,21岁,头面部、颈部、躯干、双腋下及臀部见弥漫性毛囊角化性丘疹,部分融合成片,局部可见疣状增生;家族成员均无类似症状。例2颈部皮损组织病理:表皮角化过度伴灶状角化不全,棘层部分区域棘刺松解并有腔隙形成,可见绒毛、圆体和谷粒细胞,真皮浅层炎症细胞浸润。2例患者及其父母基因检测:例1及母亲ATP2A2基因存在第15外显子c.2300A>G错义突变;例2第15外显子与第15内含子交界处存在c.2097+5G>A剪切区域突变。2例患者其他家族成员未见上述突变。Case 1,a 16-year-old male patient,presented with local verrucous hyperplasia and clustered brown follicular keratotic papules on the face,neck and bilateral axillae,some of which merged into plaques;his mother had similar medical history and clinical manifestations.Case 2,a 21-year-old male patient,presented with local verrucous hyperplasia and diffuse follicular keratotic papules on the head,face,neck,trunk,bilateral axillae and buttocks,some of which merged into patchy lesions;none of his family members had similar symptoms.Histopathological examination of the neck skin lesion of the case 2 showed epidermal hyperkeratosis with focal parakeratosis,suprabasal cleft with acantholysis,“villi”,corps ronds and grains in the spinous layer,and inflammatory cells infiltrating the superficial dermis.Genetic testing showed a missense mutation c.2300A>G in exon 15 of the ATP2A2 gene in both the case 1 and his mother,and a splice-region mutation c.2097+5G>A at the junction between exon 15 and intron 15 of the ATP2A2 gene in the case 2.Neither of these mutations were identified in the other family members of the 2 patients.

关 键 词：DARIER病 毛囊角化病 ATP2A2基因 疣状增生 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]