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Erythrokeratoderma Variabilis

Last updated April 6, 2018

Approved by: Maulik P. Purohit MD, MPH

Erythrokeratoderma is a benign skin condition, wherein as the name suggests, the skin is red (erythematous) and thickened with the presence of scaling (or hyperkeratosis). The skin condition is considered to be a pattern of skin findings and not a disease/condition in itself.

What are the other Names for this Condition? (Also known as/Synonyms)

  • EKV (Erythrokeratoderma Variabilis)
  • Erythrokeratodermia Variabilis Et Progressiva (EKVP)
  • Erythrokeratodermia Figurata Variabilis of Mendes da Costa

What is Erythrokeratoderma Variabilis? (Definition/Background Information)

  • Erythrokeratoderma is a benign skin condition, wherein as the name suggests, the skin is red (erythematous) and thickened with the presence of scaling (or hyperkeratosis). The skin condition is considered to be a pattern of skin findings and not a disease/condition in itself
  • Erythrokeratoderma Variabilis (EKV) may be described as the most common variant (or major subtype) of erythrokeratoderma. It is caused by inherited or sporadic genetic mutations
  • The signs and symptoms may be present at birth or within the first 12 months of birth. It is a slowly-progressing condition, and hence, it is also known as Erythrokeratodermia Variabilis Et Progressiva (EKVP)
  • The skin redness and thickening can be focal (localized) or widespread (diffused) and the manifestation is in the form of red flaky plaques or patches. Any part of the body skin may be affected
  • A diagnosis of Erythrokeratoderma Variabilis can be made by clinical exam, skin exam, and various other diagnostic tools including dermoscopy and wood’s lamp examination. Genetic testing to identify the genes associated with the disorder may be undertaken
  • Erythrokeratoderma Variabilis is an incurable condition. However, following puberty, the signs and symptoms are known to remain stable and they do not get worse. The skin condition may be treated using moisturizers, topical creams, and skin softeners
  • The prognosis of Erythrokeratoderma Variabilis Et Progressiva depends upon the severity of the symptoms. However, with adequate treatment, the prognosis is generally good

Who gets Erythrokeratoderma Variabilis? (Age and Sex Distribution)

  • Erythrokeratoderma Variabilis is a rare genetic skin condition
  • It is observed at birth or shortly following birth of the child. Study reports indicate that over half the infants present some signs and symptoms at birth, while nearly 90% present them by age 1
  • No male/female gender, racial, or ethnic group preference is noted

What are the Risk Factors for Erythrokeratoderma Variabilis? (Predisposing Factors)

  • A positive family history of Erythrokeratoderma Variabilis is a risk factor for the condition to be inherited
  • In case no preceding family history is noted, then the risk factors are generally unknown

The following factors are known to aggravate the condition:

  • Severe emotional stress
  • Seasonal temperature changes - extreme hot and cold weather conditions
  • Abnormal friction on the skin, such as from tight-fitting clothes

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Erythrokeratoderma Variabilis? (Etiology)

Erythrokeratoderma Variabilis is a genetic condition that may have a familial inheritance pattern or be sporadic in occurrence. Congenital cases usually follow an autosomal dominant pattern of inheritance.

  • Genetic mutations in the GJB3 and GJB4 genes have been noted. These genes are responsible for the connexin protein that forms connection between the cells
  • Due to the gene mutations, there is an abnormal build-up of protein in the skin cells, which results in early cell death. This is manifested as signs and symptoms including skin inflammation and redness, etc.
  • In some cases, sporadic ‘new’ mutations are noted; in such cases, the cause is unidentified. The sporadic mutations can become inherited in subsequent generations

Erythrokeratodermia Variabilis Et Progressiva is not a contagious condition and it does not spread from one individual to another via physical contact.

What are the Signs and Symptoms of Erythrokeratoderma Variabilis?

The signs and symptoms of Erythrokeratoderma Variabilis may be seen at birth or infancy. The severity and range of signs and symptoms can vary from one individual to another. The variation may be present within members of the same family too.

The skin signs and symptoms associated with Erythrokeratoderma Variabilis may include:

  • Red or red-brown flaky or rough skin that can occur anywhere in the body in the form of plaques; a symmetric pattern of presentation (uniform formation) on both sides of the body may be seen
  • The usual body sites for these ‘fixed’ plaques are the arms and legs
  • Inflammatory red skin patches/plaques may also be seen, which is another typical feature of EKV. These patches may take on any size and shape
  • They appear and disappear chronically (typically within few hours to days), usually due to the presence of triggers. The newer patches may be seen at different body sites. Hence, these are referred to as ‘migratory’ plaques
  • The triggers may include trauma, hot-cold weather changes, friction, etc.
  • In some individuals, the skin condition is localized; while in others, it may be generalized or widespread
  • The hair and nails are not usually affected
  • Other parts of the body or organs are not affected; the overall health and mental growth is unaffected
  • In some individuals, the skin lesions may itch and/or present burning sensations
  • Scratching the skin lesions may result in bleeding and ulceration

The signs and symptoms of Erythrokeratodermia Variabilis Et Progressiva can get worse up to puberty; after puberty (i.e., after age 12-13 years), they do not get worse and may remain stable during adulthood.

How is Erythrokeratoderma Variabilis Diagnosed?

The diagnosis of Erythrokeratoderma Variabilis may involve the following tests and exams:

  • A complete evaluation of medical history along with a thorough examination of the skin lesions by a dermatologist
  • The healthcare provider may also ask many questions related to the individual’s age, family medical history, current medications, cosmetics, body lotions used, other medical conditions, infections, etc.
  • Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
  • Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
  • Genetic tests and analysis to identify the genes involved
  • Skin biopsy: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Erythrokeratoderma Variabilis?

The complications associated with Erythrokeratoderma Variabilis may include the following:

  • In some individuals, it can cause severe emotional stress and cosmetic concerns
  • Bleeding and ulceration can result in secondary bacterial and fungal infections
  • Permanent scarring of skin
  • The quality of life may be affected, especially for school-going children

How is Erythrokeratoderma Variabilis Treated?

Generally, there is no cure for Erythrokeratoderma Variabilis. However, the skin condition/skin lesions may be addressed through skin softening treatment measures such as:

  • Use of skin moisturizing creams and lotions; ointments containing vitamin D
  • Steroid creams, topical retinoids
  • Oral retinoid therapy
  • Keratolytic therapy: It involves treatment using a variety of medications, such as salicylic acid, urea, lactic acid, benzoyl peroxide, which helps with thickened skin due to scaling

Typically, in most children, the signs and symptoms stabilize after puberty.

How can Erythrokeratoderma Variabilis be Prevented?

Erythrokeratoderma Variabilis may not be preventable in a majority of individuals. However, in case of an inherited condition, the following may be noted:

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Erythrokeratoderma Variabilis? (Outcomes/Resolutions)

  • The prognosis of Erythrokeratoderma Variabilis usually depends upon the severity of its signs and symptoms. In most cases, the condition is known to regress and stabilize post-puberty
  • EKV can cause emotional stress in children, but the overall growth and development (both physical and mental) of the child is generally not affected
  • Regular follow up visits with the healthcare providers are important

Additional and Relevant Useful Information for Erythrokeratoderma Variabilis:

Cleaning the skin too hard with strong chemicals or soaps may aggravate the skin condition. Care must be taken avoid strong soaps and chemicals that could potentially worsen the condition.

What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Feb. 7, 2017
Last updated: April 6, 2018