NCT03849989

M. Hailey-Hailey: hSPCA1 Expression and Skin Structure Upon Laser Therapy

Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 11 (actual)
• Sponsor: Maastricht University Medical Center · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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

Conditions

• Hailey Hailey Disease

Interventions

Type	Name	Description
PROCEDURE	Skin biopsy	Skin biopsy: Tissue samples will be taken by punch biopsy according to the daily routine of the Department of Dermatology of the Maastricht UMC+. Steps: * Skin desinfection with chlorhexidine digluconate 1% solution * Local anaesthesia with lidocaine hydrochloride 1% * Biopsy specimens are taken with sterile punch device (disposable biopsy punch delivered by kai medical) * Biopsy specimens are retrieved with sterile pincer and cut with sterile blade * Wound is stitched with a single transcutaneous stich using absorbable suture (vicryl 4.0). * Wound will be treated with R/ fusidic acid ointment 3 to 5 times per day for two weeks * In the first week after laser therapy the wound will be covered by R/ Urgotull non-adhesive gauze, R/ Cutisoft cotton non-sterile gauze and R/ Klinipress exsupad absorbing bandage.

Timeline

• Start date: 2018-12-21
• Primary completion: 2024-03-15
• Completion: 2024-03-15
• First posted: 2019-02-21
• Last updated: 2024-03-20

Locations

1 site across 1 country: Netherlands