Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings
(2013) In Acta Dermato-Venereologica 93(3). p.309-313- 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 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),... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3990498
- author
- Bygum, Anette ; Virtanen, Marie ; Brandrup, Flemming ; Gånemo, Agneta LU ; Sommerlund, Mette ; Strauss, Gitte and Vahlquist, Anders
- organization
- publishing date
- 2013
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- genomic DNA sequencing, epidermolytic ichthyosis, epidermolytic, hyperkeratosis, phenotypic variation
- in
- Acta Dermato-Venereologica
- volume
- 93
- issue
- 3
- pages
- 309 - 313
- publisher
- Medical Journals Limited
- external identifiers
-
- wos:000320343800011
- scopus:84877000968
- pmid:22930352
- ISSN
- 1651-2057
- DOI
- 10.2340/00015555-1447
- language
- English
- LU publication?
- yes
- id
- c823d101-22ce-46bc-811e-427b88cfb2d7 (old id 3990498)
- date added to LUP
- 2016-04-01 13:44:06
- date last changed
- 2022-04-14 02:43:25
@article{c823d101-22ce-46bc-811e-427b88cfb2d7,
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 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.}},
author = {{Bygum, Anette and Virtanen, Marie and Brandrup, Flemming and Gånemo, Agneta and Sommerlund, Mette and Strauss, Gitte and Vahlquist, Anders}},
issn = {{1651-2057}},
keywords = {{genomic DNA sequencing; epidermolytic ichthyosis; epidermolytic; hyperkeratosis; phenotypic variation}},
language = {{eng}},
number = {{3}},
pages = {{309--313}},
publisher = {{Medical Journals Limited}},
series = {{Acta Dermato-Venereologica}},
title = {{Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings}},
url = {{https://lup.lub.lu.se/search/files/3559264/4362373.pdf}},
doi = {{10.2340/00015555-1447}},
volume = {{93}},
year = {{2013}},
}