Ichthyosis en confetti, 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 intermediate 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]
| Ichthyosis en confetti | |
|---|---|
| Other names | Ichthyosis with confetti, Congenital reticular ichthyosiform erythroderma and Ichthyosis variegata,[1] |
 | |
| Ichthyosis with confetti is inherited in an autosomal dominant manner | |
| Specialty | Dermatology |
See also
editReferences
edit- ^ 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.
- ^ Callaway, E. (2010). "The skin disease that cures itself". Nature. doi:10.1038/news.2010.434.
- ^ 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.
- ^ 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.