An integrative approach for the diagnosis, characterization and prevention of autosomal recessive congenital ichthyosis in the Middle East

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Autosomal recessive congenital ichthyosis (ARCI) is characterized by generalized scaling of the skin and variable erythema. It presents extensive clinical and genetic heterogeneity. Five loci for ARCI and two loci for similar phenotypes are known today, and mutations in five genes, assigned to four of the loci, were identified so far. The other underlying genes are still unknown, and even further loci for ARCI must exist. Because of the high rate of consanguineous marriages, there is a significantly higher incidence of ARCI in the Middle East. Therefore we intend to recruit families with ARCI from the Middle East in a comprehensive approach and clinically and molecularly characterize the disease in the region. This will result in fast and rather inexpensive standardized diagnostic schemes, which can be transferred to local medical centers and are a prerequisite for further genetic epidemiologic studies of ichthyosis in the Middle East. Consanguineous families not assigned to one of the known genes for ARCI will be particularly useful for identifying and refining novel loci by homozygosity mapping. Hence the integrative approach will both develop substantial medical tools and be of wide impact to better understanding physiological processes of the epidermis and the differentiation of keratinocytes.