1 Department of Clinical Medicine - The Department of Dermatology and Venereology, Department of Clinical Medicine, Health, Aarhus University2 Dermato-Venerologi og Allergicentret3 unknown4 Institute of Clinical Medicine, Faculty of Health Sciences, Aarhus University, Aarhus University5 Department of Clinical Medicine - The Department of Dermatology and Venereology, Department of Clinical Medicine, Health, Aarhus University
Clinical and Mutational Findings
A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire and a systematic examination together with photographs, histopathological descriptions and blood samples for mutational analysis. Sixteen patients from 12 families with generalized or naevoid epidermolytic ichthyosis and ichthyosis bullosa of Siemens were identified. Five families had mutations in K1 and 6 families had mutations in K10. Nine patients had been treated with systemic retinoids (etretinate, acitretin, isotretinoin or alitretinoin), but only 3 patients had acceptable treatment responses and chose to continue therapy. In conclusion epidermolytic ichthyosis is a rare disease with a prevalence of approximately 1 in 350,000 in Denmark and a high percentage of de novo mutations (75%). We identified 4 novel disease-causing mutations.
Acta Dermatovenereologica, 2012, Vol 93, Issue 3, p. 309-313