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

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

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.

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

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