中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (9): 718-720.doi: 10.35541/cjd.20190968

• 研究报道 • 上一篇    下一篇

毛囊角化病ATP2A2基因突变二例及家系调查

李建国1    王建波1    邵依1    窦进法1    李明2    张守民1    李振鲁1   

  1. 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

  • 收稿日期:2019-10-09 修回日期:2020-03-25 发布日期:2020-08-31
  • 通讯作者: 王建波；张守民 E-mail:wangjianbo1020@163.com; henanpifu@ sina.com
  • 作者简介:作者要求尽早刊出，晋升要用6-2
  • 基金资助:
    河南省医学科技攻关计划省部共建项目（SB201904011）

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

Li Jianguo1, Wang Jianbo1, Shao Yi1, Dou Jinfa1, Li Ming2, Zhang Shoumin1, Li Zhenlu1   

  1. 1Department of Dermatology, Henan Provincial People′s Hospital, People′s Hospital of Zhengzhou University, People′s Hospital of Henan University, Zhengzhou 450003, China; 2Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200082, China
  • Received:2019-10-09 Revised:2020-03-25 Published:2020-08-31
  • Contact: Wang Jianbo; Zhang Shoumin E-mail:wangjianbo1020@163.com; henanpifu@ sina.com
  • Supported by:
    Joint Construction Program and Medical Science and Technology Research Project of Henan Province （SB201904011）

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摘要： 【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。

关键词: Darier病, 毛囊角化病, ATP2A2基因, 疣状增生

Abstract: 【Abstract】 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.

Key words: Darier disease, Keratosis follicularis, ATP2A2 gene, Verrucous hyperplasia