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Erythrokeratoderma | Open Access Journals
Journal of Genetics and Genomes

Journal of Genetics and Genomes

ISSN: 2684-4567

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Erythrokeratoderma

Erythrokeratoderma, sometimes called erythrokeratoderma, is the descriptive name given to a rare group of keratinization disorders. It is the process that forms the different layers of the epidermis, the outermost layer of the skin. The various erythrokeratoderms are characterized by well-defined plaques of erythema (redness) and hyperkeratosis (scaling).

Erythrokeratoderma is caused by several genetically inherited, mainly autosomal dominant disorders. This means that the gene comes from a parent and that an individual with the disease can pass it on to 50% of their children. Sporadic cases arise due to new genetic mutations at conception.

In most types of erythrokeratoderma, the underlying defect appears to be a mutation in one of the connexin genes. Connectins are gap-junction proteins found in the channels that connect adjacent cells. Different connexins are found in different tissues, which explains the variability in presentation.

Genetic counseling should be offered to affected individuals and their families of childbearing age. Over time, genetic tests for specific disorders may become available to some families.

Erythrokeratoderma variabilis is the most common erythrokeratoderma and is inherited predominantly autosomal or sporadically. More than 50% of those affected have skin lesions at birth or during the neonatal period and 90% will show signs of the disease during their first year of life.

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Journal of Genetics and Genomes received 65 citations as per Google Scholar report

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