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

Summary

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.

Conditions

• 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

Interventions

PROCEDURE

Collection of biological samples

Sponsors & Collaborators

• University of Zurich

  lead OTHER

Principal Investigators

• Alexander Navarini, MD · University Hospital Zurich, Dept. of Dermatology

Eligibility

Max Age

120 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2014-01-31

Primary Completion

2020-01-31

Completion

2020-01-31

Countries

• Switzerland

Study Locations