erythrokeratodermia variabilis

Erythrokeratodermia variabilis, also known as EKVP, is a rare skin disorder that affects individuals from birth or appears in infancy. It is characterized by the presence of well-defined round or oval red, scaly plaques (thick patches) on the skin.

Key Features:

• The condition results in the formation of map-like patterns on the skin due to the joining together of these red, scaly plaques.
• Patients with EKVP have a normal life expectancy and do not experience any other organ manifestations.
• The disorder is chronic, meaning it persists over time without any significant improvement.

Symptoms:

• Red, scaly patches on the skin that can join together to form map-like patterns
• These patches are typically well-defined and round or oval in shape

Causes and Inheritance: Erythrokeratodermia variabilis is a rare inherited skin disorder of cornification associated with noninflammatory erythema. This means that the condition is passed down from parents to their children through genetic inheritance, and it affects the way the skin cells produce keratin.

References:

• [10] Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy.
• [11] May 17, 2022 — Erythrokeratodermia variabilis et progressiva (EKVP) is a chronic skin disorder without other organ manifestations; patients have a normal life expectancy.
• [12] Erythrokeratoderma variabilis results in well-defined round or oval red, scaly plaques (thick patches) that may join together to form map-like patterns. There ...
• [13] by AS Karadag · 2013 · Cited by 17 — Erythrokeratodermia variabilis (EKV) is a rare heterogeneous skin disorder.
• [14] Erythrokeratodermia variabilis (EKV) is a very rare inherited skin

Erythrokeratodermia variabilis (EKV) is a rare genetic skin disorder characterized by two major features: transient, figurate erythema (reddening of the skin) and hyperkeratosis (rough, thickened skin).

Key Signs and Symptoms:

• Transient Red Patches: Patients with EKV experience migratory patches of erythema, which are often targetoid or circinate in shape and last for days to months [3][5].
• Hyperkeratosis: Affected individuals also exhibit stable hyperkeratosis, a condition characterized by thickening of the skin [7][9].
• Symmetrical Lesions: The lesions associated with EKV are often arranged symmetrically on the body [4].

Other Possible Features:

• Erythema at Birth: Some patients may present with erythematous patches and hyperkeratotic plaques at birth [4].
• Fixed Lesions: With time, the migratory patches of erythema associated with EKV can become more fixed in place [5].

Chronic Nature:

• Chronic Skin Disorder: EKV is a chronic skin disorder without other organ manifestations; patients have a normal life expectancy [6].

Erythrokeratodermia variabilis, also known as EKV, is a rare genetic skin disorder that can be challenging to diagnose. While there are no distinctive histological features, several diagnostic tests and approaches can help establish the diagnosis.

• Clinical evaluation: The diagnosis of erythrokeratodermia variabilis et progressiva (EKVP) is established on the basis of clinical features [2]. A thorough physical examination by a dermatologist or a geneticist is essential to identify the characteristic skin lesions.
• Molecular diagnostic testing: Molecular testing for mutations in the connexin genes GJB3 and GJB4 can be performed to confirm the diagnosis [7]. This test can help identify the underlying genetic cause of the condition.
• Histopathological examination: While histopathological features are non-specific, a skin biopsy can be performed to rule out other conditions. Light microscopy may show some characteristic features in EKV, but these are not distinctive enough to establish a diagnosis [8].
• Genetic testing: Genetic testing for erythrokeratodermia variabilis is available through various laboratories around the world, including those in the US [4].

It's essential to note that a definitive diagnosis of erythrokeratodermia variabilis can be challenging and may require a combination of clinical evaluation, molecular diagnostic testing, and histopathological examination.

References: [1] Not applicable [2] May 17, 2022 — Diagnostics. [4] Clinical resource with information about Erythrokeratodermia variabilis and its clinical features, available genetic tests from US and labs around the world ... [7] Mar 13, 2019 — It is important to do the molecular diagnostic testing for mutations in the connexin gene GJB3 and GJB4. [8] Oct 14, 2024 — Patient-centred resources for this disease. Expert centre(s) (127) · Networks of expert centre (9) · Diagnostic tests (38) ...

Erythrokeratodermia variabilis (EKV) is a rare genetic disorder characterized by migratory red patches and relatively stable keratotic lesions on the skin. While there is no cure for EKV, various drug treatments have been explored to manage its symptoms.

Topical Retinoids: Topical retinoic acid has been reported to have limited success in treating EKV (4). However, it may be useful in controlling the symptoms during exacerbation periods, especially in summer months (6).

Oral Retinoids: Patients with EKV usually respond well to oral retinoids, such as isotretinoin and acitretin (5, 7). These drugs can lead to almost complete clinical clearing of plaques and restoration of normal numbers of epidermal keratinosomes.

Acitretin: Acitretin is a useful treatment for EKV, especially during exacerbation periods. It can be used in combination with other treatments to manage the symptoms (6).

Isotretinoin: Isotretinoin therapy has been shown to result in almost complete clinical clearing of plaques and restoration of normal numbers of epidermal keratinosomes (5). However, its use should be carefully considered due to potential side effects.

It is essential to note that the effectiveness of these treatments may vary from person to person. Establishing a long-term relationship with patients is crucial in re-evaluating treatment effectiveness and directing families to further care (11).

References: [4] S Yoo · 2006 · Cited by 13 [5] IP Rappaport · 1986 · Cited by 61 [6] DD Balci · 2008 · Cited by 12 [7] Mar 2, 2020 [11] Eryth

Erythrokeratodermia variabilis, also known as EKVP, is a rare inherited disorder characterized by well-demarcated erythematous lesions and hyperkeratotic plaques. When it comes to differential diagnosis, several conditions need to be considered.

Conditions to Rule Out

• KID syndrome (keratitis-ichthyosis-deafness syndrome): This condition can cause similar skin lesions, but it is often associated with hearing loss and eye abnormalities.
• Keratoderma hereditarium mutilans: This is a rare genetic disorder that affects the skin on the palms of the hands and soles of the feet. While it shares some similarities with EKVP, it typically does not involve erythematous lesions.
• Plaque Psoriasis: This common skin condition can cause red, scaly patches on the skin, but they are usually more widespread and not as well-demarcated as those seen in EKVP.

Other Considerations

• Erythema multiforme: This is a type of skin reaction that can be triggered by infections or medications. While it can cause erythematous lesions, they are typically more scattered and not as hyperkeratotic as those seen in EKVP.
• Contact dermatitis: This is an allergic reaction to certain substances that can cause redness and irritation on the skin. However, it usually does not involve the same level of hyperkeratosis as EKVP.

Key Features to Consider

When attempting to diagnose EKVP, consider the following key features:

• Well-demarcated erythematous lesions
• Hyperkeratotic plaques
• Inherited disorder (autosomal dominant inheritance pattern)
• Typically affects the skin on the trunk and limbs

By considering these conditions and features, healthcare providers can make an informed diagnosis of EKVP and rule out other potential causes.

References:

[7] Erythrokeratodermia is a group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques. [8] EKV is characterized by stable hyperkeratosis and transient erythematous patches. Typically, one feature predominates, and sometimes one can be more prominent than the other. [9] Erythrokeratodermia is a group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques.