Retrieving new information on ichthyosis

Steve-65 [creativecommons license] via Wikimedia Commons

Ichthyosis is a broad term for a group of hereditary skin disorders with various presentations, usually including scaling of the skin. Some forms are relatively mild, whereas others are quite severe. Previous research has identified several genes and gene regions that are associated with some forms of ichthyosis, but for other forms, the underlying genetic causes are not known. For rare diseases, determining the genetic causes can be challenging, in part because so few people are affected by them that researchers cannot obtain sufficient examples. Animal models can be useful both for identifying causative mechanisms for disorders that aren’t understood and for evaluating treatment options for disorders whose bases are known. For example, mutations in two genes (KRT10 and TGM1) are associated with forms of ichthyosis in both humans and dog breeds (Norfolk terrier and Jack Russell terrier, respectively). Because each dog breed has a high degree of homogeneity, they are promising models for studies of genetically linked diseases such as ichthyosis.

Lab Anim. (NY) 41, 92 (2012).
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