Hailey Hailey Disease
Conditions
Brief 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
Interventions
PROCEDURESkin 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.
Sponsors
Maastricht University Medical Center
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
1.Inclusion criteria 1.1.Hailey-Hailey patients Inclusion Criteria: * Clinically diagnosed M. Hailey-Hailey as confirmed by histopathology and/or genetic analysis. * Indication for ablative laser therapy * \>18 years old * Informed consent 1.2. Patients without Hailey-Hailey disease * \>18 years old * Clinically no symptoms of M. Hailey-Hailey * Informed consent
Exclusion criteria
* \<18 years old * Treatment with tetracyclines, topical hormones or oral retinoids within the last 30 days preceding participation * Lack of informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| hSPCA1 expression | Assessed at time point 0 weeks | Expression of the hSPCA1 calcium pump in keratinocytes before ablative treatment |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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 | Cell-to-cell adhesion and desmosome ultrastructure before and after ablative treatment by electron microscopy and comparison to clinically uninvolved skin and skin of patients without Hailey-Hailey disease. |
| Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence. | At 0 weeks and 6 weeks after ablative therapy | Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence. |
Countries
Netherlands
Outcome results
None listed