SNP Shot: Genomic Insights

Erythrokeratodermia variabilis et progressiva (EKVP) is a skin condition that is either present from birth or develops during infancy. The condition is marked by two primary characteristics, although the specific signs and symptoms can differ among individuals. The first characteristic is hyperkeratosis, characterized by rough and thickened skin patches. These patches are typically reddish-brown and can be widespread or localized to a small area of the body. They tend to be persistent, rarely disappearing or spreading. However, the size and shape of these patches can vary, and in some individuals, they may enlarge over time. The hyperkeratotic areas typically appear symmetrically, affecting corresponding locations on both sides of the body.

The second main feature of EKVP involves reddened skin patches, known as erythematous areas. Unlike the persistent hyperkeratosis, these erythematous areas are usually temporary, appearing and disappearing over time. Their size, shape, and location are variable, and they can occur anywhere on the body. The redness is more commonly observed during childhood and can be triggered by sudden temperature changes, emotional stress, or physical trauma or irritation to the affected area. The redness typically subsides within a few hours to a few days.

Inheritance:

EKVP is generally inherited in an autosomal dominant manner, meaning that only one copy of a mutated gene in each cell is enough to cause the condition. In most instances, an affected individual inherits the altered gene from a parent who also has the condition. In other cases, the condition arises from new gene mutations in individuals with no family history of EKVP. In rare instances, the mutation is present in only some of the body's cells, leading to a condition called mosaic EKVP or inflammatory linear verrucous epidermal nevus (ILVEN). In mosaic EKVP, the distinctive skin abnormalities are limited to a small area of the body, usually on one side, and may follow a specific pattern on the skin known as the lines of Blaschko.

While less common, some studies have indicated that EKVP can also be inherited in an autosomal recessive manner. However, this inheritance pattern has only been reported in a small number of families affected by EKVP. Autosomal recessive inheritance requires that both copies of a gene in each cell have mutations for the condition to manifest. The parents of an individual with an autosomal recessive disorder each carry one copy of the mutated gene but usually do not exhibit any signs or symptoms of the condition themselves.