Short summary

Hereditary palmoplantar keratoderma and ichthyosis are rare diseases which in daily clinical practice are difficult to manage, because the patients often lack a proper diagnosis. This means that we cannot make at personalized assessment program and treatment regimen for the patients. We postulate that the application of a gene panel, consisting of approximately 80 different genes, can identify the disease causing mutations and thereby give us a more precise diagnosis in majority of cases. Bas

Rationale

Hereditary palmoplantar keratoderma and ichthyosis are rare diseases with thickened and scaly skin. There are more than 50 subtypes and a big part of the patients have accompanying disease manifestations or associated anomalies such as deafness, hair loss, nail disease, heart disease and tumors. 

The primary goal of the project is to give a quick and more precise diagnose to patients with hereditary palmoplantar keratoderma and ichtyosis. This also means that it is possible to offer an up-to-date counselling regarding causes, inheritance and treatment of the diseases.

Based on the scientific literature and our experience in the research group, we have designed a gene-panel consisting of approximately 80 different genes. With the help from next generation sequencing (NGS) technique, we can ensure that we give a quick and reliable molecular genetic diagnostic.

Description of the cohort

Our cohort consists of adult male and female patients recruited from our outpatient clinic, at the Department of Dermatology, Odense University Hospital. They are included prospectively during planned visits. 

Data and biological material

The study participants will have their skin examined. This will be documented by photography. Blood samples will be taken (3 blood samples, 12 ml) and then, after written consent, they will be registered in the OPEN database.

Blood will also be given to an OPEN biobank, to be used in future studies and research in new treatments.

Collaborating researchers and departments

Department of Dermatology and Allergi Centre, Odense University Hospital

• Rasmus Overgaard Bach, MD
• Professor Anette Bygum, MD 

Department of Clinical Genetics, Odense University Hospital 

• Cand.scient. Klaus Brusgaard, PhD
• Chief Consultant Lilian Bomme Ousager

Department of Clinical Immunology

• Cand.scient. Marianne Antonius Jakobsen, PhD