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"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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 1. Experimental: doxycycline | Given doxycycline and assessment of skin |
| |
| 2. No Intervention: Healthy Controls | Control subjects to assess if there is baseline difference in the skin microbiome |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Doxycycline | Drug | 200mg/day for 28 days(Given doxycycline to patients with Hailey-Hailey disease) |
|
| Measure | Description | Time Frame |
|---|---|---|
| Shannon diversity index |
The diversity will be evaluated by assessing the Shannon diversity of the bacterial DNA in the skin microbiome | 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| OTU(Operational Taxonomic Unit) |
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. |
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Inclusion Criteria:
1. Hailey-Hailey disease 1-1. Inclusion Criteria
2. Normal control 2-1. Inclusion Criteria
Exclusion Criteria:
1-2. Exclusion Criteria
2-2. Exclusion Criteria
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Patients with Hailey Hailey, diagnosis confirmed by histopathology or genetics at Gangnam Severance Hospital, Dermatology Department
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| Name | Affiliation | Role |
|---|---|---|
| Sang Eun Lee | Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine, | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| GangnamSeveracne Hospital | Seoul | South Korea |
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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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| ID | Term |
|---|---|
| D004318 | Doxycycline |
| ID | Term |
|---|---|
| D013754 | Tetracyclines |
| D009279 | Naphthacenes |
| D011084 | Polycyclic Aromatic Hydrocarbons |
| D006841 | Hydrocarbons, Aromatic |
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| 1 year |
| D017437 | Skin and Connective Tissue Diseases |
| D012872 | Skin Diseases, Vesiculobullous |
| D006844 |
| Hydrocarbons, Cyclic |
| D006838 | Hydrocarbons |
| D009930 | Organic Chemicals |
| D011083 | Polycyclic Compounds |