Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions

We studied a three-generation pedigree in which seven individuals were affe cted by aplasia cutis congenita, a rare disorder characterized by the conge nital absence of the epidermis, dermis and subcutaneous tissue of the verte x or occipital region. Accurate clinical and formal genetic analysis sugges ted that this family was affected by the autosomal dominant form of the dis ease, a hereditary condition due to mutations of an unknown gene. To define the map position of this locus, we performed linkage analysis on candidate chromosomes (long arm of chromosomes 1 and 12). Negative lod scores were o btained for all markers analysed and linkage with genes located in these ch romosomal regions was excluded.