Erythrokeratodermia variabilis et progressiva
Alternate names[edit | edit source]
EKVP; Erythrokeratodermia variabilis; EKV; Erythrokeratodermia variabilis, Mendes da Costa type; Progressive symmetric erythrokeratodermia; PSEK; Erythrokeratodermia, progressive symmetric; Darier-Gottron disease; Progressiva symmetrica erythrokeratodermia; Erythrokeratoderma variabilis progressiva
Definition[edit | edit source]
Erythrokeratodermia variabilis et progressiva is a skin condition characterized by well-defined round or oval red scaly patches that may join together to form map-like patterns. Some patches are fixed, occurring most often on the outer surfaces of the arms and legs, while others are migratory - lasting for hours to days and then fading or moving to another location.
Epidemiology[edit | edit source]
EKVP is a rare disorder; its prevalence is unknown. More than 200 cases have been reported in the medical literature.
Cause[edit | edit source]
- EKVP can be caused by mutations in several genes, including GJB3, GJB4, and GJA1.
- These three genes provide instructions for making proteins called connexins 31, 30.3, and 43, respectively.
- These proteins are part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells.
- Gap junctions open and close to regulate the flow of nutrients, charged atoms (ions), and other signaling molecules from one cell to another.
- They are essential for direct communication between neighboring cells.
Gene mutations[edit | edit source]
- The GJB3, GJB4, and GJA1 gene mutations that lead to EKVP alter the structure or location of the connexins produced from these genes.
- Some GJB3 or GJB4 gene mutations lead to the production of abnormal connexins that can build up in a cell structure called the endoplasmic reticulum (ER), triggering a harmful process known as ER stress.
- Mutations in the GJA1 gene lead to the production of an abnormal connexin 43 protein that is unable to reach the cell surface to become part of gap junctions.
Inheritance[edit | edit source]
- EKVP is most often inherited in an autosomal dominant pattern.
- A few studies have shown that EKVP can also have an autosomal recessive pattern of inheritance.
Signs and symptoms[edit | edit source]
- This condition is characterized by well-defined round or oval red scaly patches that may join together to form map-like patterns.
- Some patches are fixed, occurring most often on the outer surfaces of the arms and legs, while others are migratory - lasting for hours to days and then fading or moving to another location.
- Some skin lesions are accompanied by burning or itching sensations.
- Common triggers include emotional stress, temperature changes, mechanical friction and hot or cold weather.
- Skin lesions often occur during the fist year of life, gradually progress during childhood, and then stabilize during puberty.
Diagnosis[edit | edit source]
Molecular Genetics Tests may include:
- Sequence analysis of the entire coding region
- Deletion/duplication analysis
- Targeted variant analysis
- Mutation scanning of the entire coding region
Treatment[edit | edit source]
Treatment is aimed at alleviating symptoms and may include topical retinoids or antihistamines.
NIH genetic and rare disease info[edit source]
Erythrokeratodermia variabilis et progressiva is a rare disease.
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