Ichthyosis en confetti

Ichthyosis en confetti
Classification and external resources
OMIM 609165

Ichthyosis en confetti, also known as ichthyosis with confetti. congenital reticular ichthyosiform erythroderma (CRIE) and ichthyosis variegata[1], is a very rare form of congenital ichthyosis in which healthy patches of normal skin co-exist within the abnormal skin areas.[2] It has been hypothesized that this is the result of a combination of mitotic recombination and natural selection within the skin.[3] Choate et. al. have shown that mutations in a gene called keratin-10 cause this disorder. They show that mutant keratin 10 accumulates in the nucleolus, a sub-nuclear structure, rather than within cellular intermedite filaments like the wild-type protein. It has been speculated that the presence of mutantkeratin 10 results in increased rates of mitotic recombination, thus in effect leading the disease to effect its own partial "cure".[2]

References

  1. ^ Krunic, A. L.; Palcesky, D.; Busbey, S.; Medenica, M. (2003). "Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature". Acta dermato-venereologica 83 (1): 36–39. doi:10.1080/00015550310002684. PMID 12636020.  edit
  2. ^ a b Callaway, E. (2010). "The skin disease that cures itself". Nature. doi:10.1038/news.2010.434.  edit
  3. ^ Choate, K. A.; Lu, Y.; Zhou, J.; Choi, M.; Elias, P. M.; Farhi, A.; Nelson-Williams, C.; Crumrine, D. et al. (2010). "Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10". Science 330 (6000): 94–97. Bibcode 2010Sci...330...94C. doi:10.1126/science.1192280. PMC 3085938. PMID 20798280. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3085938.  edit