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Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Dermatology and Venereology.
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2013 (English)In: Acta Dermato-Venereologica, ISSN 0001-5555, E-ISSN 1651-2057, Vol. 93, no 3, 309-313 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2013. Vol. 93, no 3, 309-313 p.
Keyword [en]
genomic DNA sequencing, epidermolytic ichthyosis, epidermolytic hyperkeratosis, phenotypic variation
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-204179DOI: 10.2340/00015555-1447ISI: 000320343800011OAI: diva2:637884
Available from: 2013-07-23 Created: 2013-07-23 Last updated: 2013-07-23Bibliographically approved

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Virtanen, MarieVahlquist, Anders
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