Ichthyosis with confetti

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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] The condition is caused by a frameshift mutation in the keratin 10 gene (KRT10);[3] mutant keratin 10 accumulates in the nucleolus, a sub-nuclear structure, rather than within cellular intermedite filaments like the wild-type protein. Children with the condition exhibit red, flaky skin; however, for reasons not yet totally clear, wild type clonal patches of skin start to appear, in place of the red, flaky skin. Due to the clonal nature of the growth of the normal skin cells, it appears the patient is covered with confetti, hence the name of the condition.[3] It has been hypothesized that this is the result of a combination of mitotic recombination and natural selection within the skin.[4]

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References[edit]

  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. ^ Callaway, E. (2010). "The skin disease that cures itself". Nature. doi:10.1038/news.2010.434.  edit
  3. ^ a b Kretzschmar, Kai; Watt, Fiona M. (2012). "Lineage Tracing". Cell 148 (1–2): 33–45. doi:10.1016/j.cell.2012.01.002. PMID 22265400. 
  4. ^ Choate, K. A.; Lu, Y.; Zhou, J.; Choi, M.; Elias, P. M.; Farhi, A.; Nelson-Williams, C.; Crumrine, D.; Williams, M. L.; Nopper, A. J.; Bree, A.; Milstone, L. M.; Lifton, R. P. (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.  edit