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Recent research has determined that the condition is due to a mutation of the gene that encodes for ABCA12 protein. This protein functions in the transportation of lipids to the intercellular layer of the stratum corneum, which is the external layer of the epidermis. This mutation causes the loss or non-functionality of ABCA12 protein and results in the inability to hold the outer layer of epidermal skin cells together (Akiyama et al. 2007).
The stratum corneum is responsible for providing protection against external threats and is also important in regulating fluid loss by holding the keratinized skin cells tightly together...
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