Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

Study Overview
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Brief Summary
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This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a discovery cohort formed based on the certainty of diagnosis. The DNA of patients in the discovery cohort is analyzed by whole exome sequencing which identifies all protein-coding genetic variants. Subsequently, statistical burden tests are going to identify enrichment of rare coding genetic variants in patients affected by Neutrophil-Mediated Inflammatory Skin Diseases. The ultimate goal is to reveal the responsible gene(s) that may then be targets for clinical intervention.

Detailed Description
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Timeframe: Collection of DNA for discovery cohort until 05/2016 Data analysis until 12/2014 for pyoderma gangrenosum, until 12/2016 for other NMID Report and data presentation early 2015 for PG, 2017 for other NMID

Official Title
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Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses

Conditions
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Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum, Erosive Pustular Dermatosis of the Scalp, Sweet's Syndrome, Behcet's Disease, Bowel-associated Dermatosis-arthritis Syndrome, Pustular Psoriasis, Acute Generalized Exanthematous Pustulosis, Keratoderma Blenorrhagicum, Sneddon-Wilkinson Disease, IgA Pemphigus, Amicrobial Pustulosis of the Folds, Infantile Acropustulosis, Transient Neonatal Pustulosis, Neutrophilic Eccrine Hidradenitis, Rheumatoid Neutrophilic Dermatitis, Neutrophilic Urticaria, Still's Disease, Erythema Marginatum, Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes, Dermatitis Herpetiformis, Linear IgA Bullous Dermatosis, Bullous Systemic Lupus Erythematosus, Inflammatory Epidermolysis Bullosa Aquisita, Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis), Small Vessel Vasculitis Including Urticarial Vasculitis, Erythema Elevatum Diutinum, Medium Vessel Vasculitis

Intervention / Treatment
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* Procedure: Collection of biological samples


Participation Criteria
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Eligibility Criteria
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Inclusion criteria: History of NMID or active disease. Informed consent. Exclusion criteria: - No consent to either part of the study.

Ages Eligible for Study
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Maximum Age: 120 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Procedure: Collection of biological samples|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Enrichment of rare coding genetic variants | Whole exome sequencing is going to detect rare coding genetic variants in cases of Neutrophil-Mediated Inflammatory Skin Diseases. Statistical burden tests are applied to test for excess of rare variants in cases versus available controls of matching ancestry. | baseline |