Short summary

Database and biobank with basic patient data and diagnosis from patients interested in future research projects.

Rationale

About 1000 monogenic skin diseases exist and most of them are very rare. This database includes 3 groups of patients:

1. Patients with a clinical and genetic diagnosis, who may participate in future research projects, e.g. on therapy (personalized medicine)
2. Patients with a clinical diagnosis, that is not yet proved genetically, who would like to take part in molecular genetic testing
3. Patients with an unclear clinical diagnosis, but suspicion of a rare and hereditary skin disorder

The database can be used to recruit patients for future national or international studies. 

Description of the cohort

All patients (adults and children with permission of parents) with possible rare genodermatoses are offered to participate in the database and will be recruited prospectively during planned visits. 

Data and biological material

Basic clinical data of demographic features, diagnosis and diagnostic criteria are captured in the database.

Collaborating researchers and departments

Department of Dermatology and Allergy Centre, Odense University Hospital

• House officer & Associate professor Rasmus Overgaard Bach
• Consultant & Professor Anette Bygum