Hailey-Hailey Disease
Conditions
Brief summary
Hailey-Hailey disease is an autosomal dominant disorder caused by a genetic defect in a calcium ATPase (ATP2C1) leading to a defect in keratinocyte adhesion. The characteristic of this disease is the involvement of intertriginous areas of the skin, which are the moist sites including the axillary vault and the inguinal crease. The composition of microbial communities is primarily dependent on the physiology of the skin site and the moist sites have distinct compositions of skin microorganisms. In addition, treatment with doxycycline is often helpful in the management of Hailey-Hailey disease. These findings suggest a role of the skin microbiome in the pathogenesis of Hailey-Hailey disease. The purpose of this study is to characterize the skin microbiome in patients with Hailey-Hailey disease by the 16S method, to better understand the pathogenesis of the disease and to discover new therapeutic targets in the future.
Detailed description
Investigators will look at patients with Hailey-Hailey disease, and healthy controls. Investigators will look at skin microbiome (Bacterial diversity and the relative abundance of major bacterial taxa) Investigators will assess this in patients with Hailey-Hailey disease before and after doxycycline and compare them to healthy controls.
Interventions
DRUGDoxycycline
200mg/day for 28 days(Given doxycycline to patients with Hailey-Hailey disease)
Sponsors
Gangnam Severance Hospital
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
19 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
1\. Hailey-Hailey disease 1-1. Inclusion Criteria 1. Clinically diagnosed with Hailey-Hailey as confirmed by histopathology and/or genetic analysis. 2. \>19 years old 3. Patients who currently have lesions on the axilla and groin 4. Patietns who signed the consent form and Informed Consent in Human Material Research 2\. Normal control 2-1. Inclusion Criteria 1. \>19 years old 2. Persions who signed the consent form and Informed Consent in Human Material Research
Exclusion criteria
1-2.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Shannon diversity index | 1 year | 1. Change in the bacterial diversity index of the skin microbiome in those with and without Hailey-Hailey disease. 2. Change in the bacterial diversity index of the skin microbiome before and after the treatment of doxycycline in those with Hailey-Hailey disease The diversity will be evaluated by assessing the Shannon diversity of the bacterial DNA in the skin microbiome |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| OTU(Operational Taxonomic Unit) | 1 year | 1. Change in the relative abundance of major bacterial taxa of skin microbiome in those with and without Hailey-Hailey disease 2. Change in the relative abundance of major bacterial taxa of skin microbiome before and after the treatment of doxycycline in those with Hailey-Hailey disease The representative Operational Taxonomic Unit (OTU) sequences were assigned to a taxonomy at a confidence threshold of 50% using remote desktop protocol classifier with reference to the Greengenes database. Relative abundance of OTUs based on all unique sequences was measured. |
Countries
South Korea
Outcome results
None listed