Ichthyosis en confetti, is a very rare form of
congenital
A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...
ichthyosis
Ichthyosis is a family of genetic disorder, genetic skin disorders characterized by Xeroderma, dry, Scleroderma, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cau ...
in which healthy patches of normal skin co-exist within the abnormal skin areas.
The condition is caused by a
frameshift mutation
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels ( insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet natur ...
in the keratin 10 gene (KRT10);
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.
It has been hypothesized that this is the result of a combination of
mitotic recombination
Mitotic recombination is a type of genetic recombination that may occur in somatic cells during their preparation for mitosis in both sexual and asexual organisms. In asexual organisms, the study of mitotic recombination is one way to understand ...
and
natural selection
Natural selection is the differential survival and reproduction of individuals due to differences in phenotype. It is a key mechanism of evolution, the change in the Heredity, heritable traits characteristic of a population over generation ...
within the skin.
See also
*
List of cutaneous conditions caused by mutations in keratins
There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease.
Of note, other structural proteins in the epidermis of the skin that are closely re ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ...
References
External links
Genodermatoses
{{Genodermatoses-stub