Islands of Normalcy in a Sea of Red

Ichthyosis with confetti (IWC) is characterized by erythroderma, keratoderma, compromised barrier function, and the development over time of thousands of small patches of normal skin (confetti spots). To map and identify the disease-causing mutations in patients with IWC, investigators analyzed several affected kindreds.

The researchers found an area of chromosome 17q that showed loss of heterozygosity (LOH) within these normal islands of skin but not within the affected areas or in blood. This observation suggested that the normal areas revert to regular epidermis through loss of the mutant copy (allele) of the disease-causing gene. By sequencing the same region of 17q in cells in affected skin and blood, the researchers identified causativ…