Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 11
- 试验地点
- 2
- 主要终点
- hSPCA1 expression
研究概览
简要总结
Hailey-Hailey disease is a genetic acantholytic dermatosis characterized by continuous erosion of the skin that results in a burning, painful sensation and restricts the patient in daily life. This disorder results from a genetic defect in a calcium pump, i.e. the hSPCA1 pump. Calcium pumps are crucial for the processing of cell-cell adhesion proteins such as E-cadherin, part of desmosomes, the major glue between keratinocytes in skin epidermis. Today therapy is mainly focussed on symptom relief and prevention of secondary infection.
Ablative laser therapy is known to result in a speedy healing of the affected skin site within 2 weeks following laser therapy. The fact that the treated skin site remains clear from this acantholytic disorder in the months/years following ablation, regardless the existence of a germline mutation, suggests that an epigenetic modification occurs in the process of wound healing.
Objective: to (1) study the expression of hSPCA1 in keratinocytes before and after laser therapy and (2) verify the loss of acantholysis by immunohistochemistry and electron microscopy of cell-cell adhesions before and after laser therapy
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinically diagnosed M. Hailey-Hailey as confirmed by histopathology and/or genetic analysis.
- •Indication for ablative laser therapy
- •>18 years old
- •Informed consent
- •Patients without Hailey-Hailey disease
- •>18 years old
- •Clinically no symptoms of M. Hailey-Hailey
- •Informed consent
排除标准
- •<18 years old
- •Treatment with tetracyclines, topical hormones or oral retinoids within the last 30 days preceding participation
- •Lack of informed consent
结局指标
主要结局
hSPCA1 expression
时间窗: Assessed 6 weeks after ablative treatment
Expression of the hSPCA1 calcium pump in keratinocytes after ablative treatment
次要结局
- Ultrastructure of the skin before and after ablative treatment by electron microscopy and comparison to clinically uninvolved skin and skin of patients without Hailey-Hailey disease.(At 0 weeks and 6 weeks after ablative therapy)
- Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence.(At 0 weeks and 6 weeks after ablative therapy)