Welcome to roughskin.de

 

The focus of our dermato-genetic group, at the University of Cologne as part of the Cologne Center for
Genomics, is on  keratinization disorders including congenital ichthyosis, palmoplantar keratoderma, keratolytic winter erythema.

  

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.

This work is supported by the German Support Group Ichthyosis.

If you would like to cite this work, please use the following references:

 

1.                  Spectrum and functional analysis of inactivating mutations in the epidermis-type lipoxygenase genes in autosomal recessive congenital ichthyosis (ARCI).

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

 

2.                  An internet-based database on the analysis of autosomal recessive congenital ichthyoses and other inherited disorders of keratinization.

C. Eckl, K.M. Eckl, H.C. Hennies. American Journal of Human Genetics 2004 75 A766