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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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Hailey-Hailey disease | Experimental | Patients with Hailey Hailey, diagnosis confirmed by histopathology or genetics, with therapy resistant skin lesions suitable for ablative lasertherapy. Skin biopsy specimens will be taken before and after lasertherapy at three time points. Before treatment: Affected skin 4 mm punch for immunofluorescence and RNA extraction 2 mm for electron microscopy Healthy skin within same anatomical region 4 mm punch for immunofluorescence and RNA extraction Immediately after treatment of the treated area: 2 mm punch for histopathology Six weeks after treatment: Treated skin 4 mm punch for immunofluorescence and RNA extraction 2 mm for electron microscopy 2mm punch biopsy of clinically uninvolved skin of the upper arm for electron microscopy Patients without Hailey-Hailey disease: 2mm punch biopsy of skin of the upper arm for electron microscopy |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Skin biopsy | Procedure | 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:
|
| Measure | Description | Time Frame |
|---|---|---|
| hSPCA1 expression | Expression of the hSPCA1 calcium pump in keratinocytes before ablative treatment | Assessed at time point 0 weeks |
| hSPCA1 expression | Expression of the hSPCA1 calcium pump in keratinocytes after ablative treatment | Assessed 6 weeks after ablative treatment |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 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. | At 0 weeks and 6 weeks after ablative therapy |
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1.Inclusion criteria
1.1.Hailey-Hailey patients
Inclusion Criteria:
1.2. Patients without Hailey-Hailey disease
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Valerie Verstraeten, MD PhD | Maastricht University Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Maastricht University Medical Center | Maastricht | Limburg | 6202 AZ | Netherlands |
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| Label | URL |
|---|---|
| Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes. | View source |
| Carbon dioxide laser treatment in Hailey-Hailey disease: a series of 8 patients. | View source |
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| ID | Term |
|---|---|
| D016506 | Pemphigus, Benign Familial |
| ID | Term |
|---|---|
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012871 | Skin Diseases |
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| Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence. | Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence. | At 0 weeks and 6 weeks after ablative therapy |
| The coexistence of Darier's disease and Hailey-Hailey disease symptoms. |
| View source |
| Efficacy of erbium:YAG laser ablation in Darier disease and Hailey-Hailey disease. | View source |
| Carbon dioxide laser treatment for Hailey-Hailey disease: a retrospective chart review with patient-reported outcomes. | View source |
| Laser therapy for the treatment of Hailey-Hailey disease: a systematic review with focus on carbon dioxide laser resurfacing. | View source |
| D017437 | Skin and Connective Tissue Diseases |
| D012872 | Skin Diseases, Vesiculobullous |