Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue | Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue research study

What is the primary objective of this study?

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.

Who is eligible to participate?

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

Which medical condition, disease, disorder, syndrome, illness, or injury is researched?

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

Study Interventions

Interventions can include giving participants drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available or noninvasive approaches such as surveys, education, and interviews.

Procedure:Collection of biological samples

Study Arms

Research studies and clinical trials typically have two or more research arms. An arm is a group of people who receive the same treatment in the study.

Study Status


Start Date: January 2014

Completed Date: January 2020


Type: Observational


Primary Outcome: Enrichment of rare coding genetic variants

Secondary Outcome:

Study sponsors, principal investigator, and references

Principal Investigator: Alexander Navarini, MD

Lead Sponsor: University of Zurich


More information:

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