Ichthyosis with confetti
| Ichthyosis en confetti | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 609165 |
| Patient UK | Ichthyosis with confetti |
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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