ROUGHSKIN.DE
     
   
   
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. Molecular Genetics and Gene Mapping Center, Max Delbrück Center, Berlin, Germany.

   Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous disorder characterized by generalized scaling of the skin and erythema. Color and shape of the scales and extent of erythema are highly variable, as well as a number of further features. A consistent genotype/phenotype correlation was not identified so far. In order to store and provide data from patients with ARCI and other related skin disorders, we have now developed a concise database service. Different phenotype variables, family history, pedigree, biochemical and histopathological data are stored for each sample. The family history will be automatically transferred to linkage compatible data formats and graphical output of the pedigree, clinical pictures will be included and presented as thumbnails. The service runs on an Apache 2 web server and is powered by a MySQL database management system and accessible through the web using an HTTP interface. For data protection reasons, sample names are stored on a separate server connected with the database by anonymous 32bit sample IDs. Data requests are handled semi-automatically via email using temporary IDs, each valid for immediate access and one dataset. The database stores genotyping data for indirect analysis of all known ARCI loci as well as mutation data obtained by direct sequencing. Further data are being collected within the "German Network for Ichthyoses and Related Keratinization Disorders", which aims at comprehensively recording and characterizing such families. The service is open to external users on a collaborative basis and includes different user levels. The main purpose of the database is to assist the work of research groups by providing a common platform for data collection and exchange. Since ARCI and other keratinization disorders are rare, the database not only provides a mutation survey but is valuable for systematically collecting data. Thus, it helps to generate criteria for analyzing a potential genotype/phenotype correlation and further characterization of the phenotypic outcome of specific mutations.
   
     
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