Erythrokeratodermia variabilis: Difference between revisions
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[[File:Autosomal_dominant_-_en.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Erythrokeratodermia variabilis | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| alt = | |||
| caption = Erythrokeratodermia variabilis is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Dermatology]] | |||
| symptoms = Red patches, thickened skin | |||
| onset = Infancy or early childhood | |||
| duration = Lifelong | |||
| causes = Genetic mutations in [[GJB3]] or [[GJB4]] | |||
| risks = Family history | |||
| diagnosis = Clinical evaluation, genetic testing | |||
| differential = [[Ichthyosis]], [[Psoriasis]] | |||
| treatment = [[Emollients]], [[Keratolytics]], [[Retinoids]] | |||
| medication = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Erythrokeratodermia variabilis''' (EKV) is a rare [[genetic disorder]] characterized by the presence of transient red patches (erythema) and persistent thickened skin (hyperkeratosis). This condition is typically evident from birth or early infancy and can vary significantly in its presentation and severity. | |||
== Clinical Features == | == Clinical Features == | ||
Individuals with erythrokeratodermia variabilis exhibit two primary skin abnormalities: | Individuals with erythrokeratodermia variabilis exhibit two primary skin abnormalities: | ||
* **Erythematous Patches**: These are well-demarcated, red patches that can appear anywhere on the body. They are transient and can change in size, shape, and location over time. | * **Erythematous Patches**: These are well-demarcated, red patches that can appear anywhere on the body. They are transient and can change in size, shape, and location over time. | ||
* **Hyperkeratosis**: This refers to areas of thickened skin that are usually symmetric and persistent. The hyperkeratotic plaques are often found on the extremities, buttocks, and face. | * **Hyperkeratosis**: This refers to areas of thickened skin that are usually symmetric and persistent. The hyperkeratotic plaques are often found on the extremities, buttocks, and face. | ||
== Genetics == | == Genetics == | ||
EKV is primarily inherited in an [[autosomal dominant]] manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. Mutations in the [[GJB3]] and [[GJB4]] genes, which encode the connexin proteins [[connexin 31]] and [[connexin 30.3]], respectively, are known to cause EKV. These proteins are involved in the formation of gap junctions, which are essential for cell communication in the skin. | EKV is primarily inherited in an [[autosomal dominant]] manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. Mutations in the [[GJB3]] and [[GJB4]] genes, which encode the connexin proteins [[connexin 31]] and [[connexin 30.3]], respectively, are known to cause EKV. These proteins are involved in the formation of gap junctions, which are essential for cell communication in the skin. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of erythrokeratodermia variabilis is based on clinical examination and the characteristic appearance of the skin lesions. Genetic testing can confirm the diagnosis by identifying mutations in the GJB3 or GJB4 genes. A skin biopsy may also be performed to rule out other conditions with similar presentations. | The diagnosis of erythrokeratodermia variabilis is based on clinical examination and the characteristic appearance of the skin lesions. Genetic testing can confirm the diagnosis by identifying mutations in the GJB3 or GJB4 genes. A skin biopsy may also be performed to rule out other conditions with similar presentations. | ||
== Treatment == | == Treatment == | ||
There is no cure for EKV, but treatment focuses on managing symptoms. Options include: | There is no cure for EKV, but treatment focuses on managing symptoms. Options include: | ||
| Line 17: | Line 34: | ||
* **Systemic Treatments**: Retinoids, such as [[acitretin]], may be prescribed for severe cases. | * **Systemic Treatments**: Retinoids, such as [[acitretin]], may be prescribed for severe cases. | ||
* **Lifestyle Adjustments**: Avoiding triggers that exacerbate erythema, such as heat and friction, can help manage symptoms. | * **Lifestyle Adjustments**: Avoiding triggers that exacerbate erythema, such as heat and friction, can help manage symptoms. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with erythrokeratodermia variabilis varies. While the condition is chronic and can significantly impact quality of life, it is not life-threatening. With appropriate management, many individuals can lead relatively normal lives. | The prognosis for individuals with erythrokeratodermia variabilis varies. While the condition is chronic and can significantly impact quality of life, it is not life-threatening. With appropriate management, many individuals can lead relatively normal lives. | ||
== See Also == | == See Also == | ||
* [[Ichthyosis]] | * [[Ichthyosis]] | ||
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* [[Genodermatoses]] | * [[Genodermatoses]] | ||
* [[Connexin]] | * [[Connexin]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{Commons category|Erythrokeratodermia variabilis}} | {{Commons category|Erythrokeratodermia variabilis}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Dermatology]] | [[Category:Dermatology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Autosomal dominant disorders]] | [[Category:Autosomal dominant disorders]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 15:24, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Erythrokeratodermia variabilis | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Dermatology |
| Symptoms | Red patches, thickened skin |
| Complications | N/A |
| Onset | Infancy or early childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations in GJB3 or GJB4 |
| Risks | Family history |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Ichthyosis, Psoriasis |
| Prevention | N/A |
| Treatment | Emollients, Keratolytics, Retinoids |
| Medication | |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | |
Erythrokeratodermia variabilis (EKV) is a rare genetic disorder characterized by the presence of transient red patches (erythema) and persistent thickened skin (hyperkeratosis). This condition is typically evident from birth or early infancy and can vary significantly in its presentation and severity.
Clinical Features[edit]
Individuals with erythrokeratodermia variabilis exhibit two primary skin abnormalities:
- **Erythematous Patches**: These are well-demarcated, red patches that can appear anywhere on the body. They are transient and can change in size, shape, and location over time.
- **Hyperkeratosis**: This refers to areas of thickened skin that are usually symmetric and persistent. The hyperkeratotic plaques are often found on the extremities, buttocks, and face.
Genetics[edit]
EKV is primarily inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. Mutations in the GJB3 and GJB4 genes, which encode the connexin proteins connexin 31 and connexin 30.3, respectively, are known to cause EKV. These proteins are involved in the formation of gap junctions, which are essential for cell communication in the skin.
Diagnosis[edit]
The diagnosis of erythrokeratodermia variabilis is based on clinical examination and the characteristic appearance of the skin lesions. Genetic testing can confirm the diagnosis by identifying mutations in the GJB3 or GJB4 genes. A skin biopsy may also be performed to rule out other conditions with similar presentations.
Treatment[edit]
There is no cure for EKV, but treatment focuses on managing symptoms. Options include:
- **Topical Treatments**: Emollients and keratolytic agents can help reduce scaling and hyperkeratosis.
- **Systemic Treatments**: Retinoids, such as acitretin, may be prescribed for severe cases.
- **Lifestyle Adjustments**: Avoiding triggers that exacerbate erythema, such as heat and friction, can help manage symptoms.
Prognosis[edit]
The prognosis for individuals with erythrokeratodermia variabilis varies. While the condition is chronic and can significantly impact quality of life, it is not life-threatening. With appropriate management, many individuals can lead relatively normal lives.
See Also[edit]
References[edit]
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External Links[edit]
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