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Generalized and Nae...
Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings
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Bygum, Anette (författare)
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- Virtanen, Marie (författare)
- Uppsala universitet,Dermatologi och venereologi
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Brandrup, Flemming (författare)
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- Gånemo, Agneta (författare)
- Lund University,Lunds universitet,Yrkes- och miljödermatologi,Forskargrupper vid Lunds universitet,Occupational and Environmental Dermatology,Lund University Research Groups
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Sommerlund, Mette (författare)
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Strauss, Gitte (författare)
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- Vahlquist, Anders (författare)
- Uppsala universitet,Dermatologi och venereologi
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(creator_code:org_t)
- Medical Journals Sweden AB, 2013
- 2013
- Engelska.
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 1651-2057 .- 0001-5555. ; 93:3, s. 309-313
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Dermatologi och venereologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Dermatology and Venereal Diseases (hsv//eng)
Nyckelord
- genomic DNA sequencing
- epidermolytic ichthyosis
- epidermolytic
- hyperkeratosis
- phenotypic variation
- genomic DNA sequencing
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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