Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings

Anette Bygum, Marie Virtanen, Flemming Brandrup, Agneta Gånemo, Mette Sommerlund, Gitte Strauss, Anders Vahlquist

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Abstract

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 identifed. Five families had mutations in K1 and 6 families had mutations in K10. Nine patients had been treated with systemic retinoids (etretinate, aci-tretin, 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 identifed 4 novel disease-causing mutations.

OriginalsprogEngelsk
TidsskriftActa Dermato-Venereologica
Vol/bind93
Udgave nummer3
Sider (fra-til)309-313
ISSN0001-5555
DOI
StatusUdgivet - mar. 2013

Bibliografisk note

Epub ahead of print

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