Welcome to roughskin.de
focus of our dermato-genetic group, at the
University of Cologne as part of the Cologne
Autosomal recessive congenital ichthyosis form a heterogeneous group of keratinization disorders. In order to analyse the clinical and genetical heterogeneity, a database with comprehensive patient data, such as biochemical, histochemical findings, results of genetic tests, pedigrees and clinical findings, will help us to understand more about congenital ichthyosis.
New families, especially consanguineous ones with several affected members, may lead us to new currently unknown ichthyosis-linked genes. So we are very interested in such families.
We also provide pre- and postnatal genetic analysis for the most common gene loci for congenital ichthyosis and for palmoplantar keratoderma (PPK), especially for epidermolytic PPK and Mal de Meleda (MDM). Please contact us. (Professionals only.)
Here you can find a download-able version of our clinical examination questionnaire.
Please include clinical data when providing us genetic material.
This database is supported by a grant in aid from the German Federal Ministry for Education and Research within the programme “Networks for Rare Diseases”: NIRK - Network for Ichthyosis and Related Keratinization Disorders.
work is supported by the German
Support Group Ichthyosis.
If you would like to cite this work, please use the following references:
K.M. Eckl1, P. Krieg2, W. Küster3, H. Traupe4, F. André1, N. Wittstruck1, G. Fürstenberger2, H.C. Hennies1. American Journal of Human Genetics 2004 75 A1256
C. Eckl, K.M. Eckl, H.C. Hennies. American Journal of Human Genetics 2004 75 A766
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