erythrokeratodermia variabilis et progressiva 4

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare inherited skin disease characterized by fixed hyperkeratotic plaques and transient erythematous lesions [2]. The condition is also known as Erythrokeratoderma variabilis progressiva (EKVP) [3].

The symptoms of EKVP include:

• Persistent plaque-like or generalized hyperkeratosis
• Transient erythematous lesions
• Fixed hyperkeratotic plaques

EKVP is a genodermatosis, which means it is a genetic disorder that affects the skin. It is characterized by widespread erythematous plaques and hyperkeratosis [7].

In some cases, EKVP can be associated with other organ manifestations, but in most cases, patients have a normal life expectancy [1].

Characteristics of Erythrokeratodermia Variabilis Et Progressiva (EKVP)

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin disorder characterized by well-demarcated plaques of reddened, dry and thickened skin. The major features of this condition include:

• Hyperkeratosis: A thickening of the skin that may be generalized or localized with red or yellow-brown patches.
• Transient Erythema: Transient, figurate erythema (reddening of the skin) that seems to occur independently and can vary in size, shape, and location.

These symptoms can arise on normal or previously affected skin, and may be surrounded by an anemic halo. They can coalesce into large, figurate patches or have a circinate, targetoid appearance.

Key Points:

• The condition is characterized by two major features: hyperkeratosis and transient erythema.
• Hyperkeratosis refers to the thickening of the skin, which may be generalized or localized with red or yellow-brown patches.
• Transient erythema refers to the reddening of the skin that seems to occur independently and can vary in size, shape, and location.

References:

• [3] May 17, 2022 — Erythrokeratodermia variabilis et progressiva (EKVP) is a chronic skin disorder without other organ manifestations; patients have a normal life expectancy.
• [7] May 17, 2022 — Concurrently or over time, a thickening of the skin (hyperkeratosis) develops, which may be generalized or localized with red or yellow-brown, ...
• [10] The major features include fixed hyperkeratosis patches and transient erythematous areas that vary in size, shape, and location.

Diagnostic Tests for Erythrokeratodermia Variabilis Et Progressiva

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin disorder, and its diagnosis can be challenging. However, several diagnostic tests are available to help confirm the presence of this condition.

• Clinical Features: The diagnosis of EKVP is primarily based on the presence of characteristic clinical features, such as well-defined round or oval red, scaly plaques that may join together to form map-like patterns [8].
• Histopathological Features: While histopathological features are non-specific, light microscopy can be used to rule out other conditions. However, it is essential to note that the histopathological features of EKVP are not diagnostic on their own [4].
• Genetic Testing: Genetic testing for mutations in the connexin genes GJB3 and GJB4 is available and can help confirm the diagnosis of EKVP [1][5]. Molecular diagnostic testing for these mutations can provide a definitive diagnosis, allowing for proper management and treatment of the condition.
• DNA Sample Analysis: A DNA sample via blood and skin biopsy can be sent for genetic testing. The results of such analysis have identified pathogenic variants in the gap junction protein alpha 1 (GJA1) gene [10].

It is essential to consult with a healthcare professional or a dermatologist for an accurate diagnosis and proper management of EKVP.

References: [4] - Context #4 [8] - Context #8 [1][5] - Context #3 & #5 [10] - Context #10

Treatment Options for Erythrokeratodermia Variabilis Et Progressiva (EKVP)

EKVP is a rare genetic skin disorder characterized by well-demarcated plaques of reddened, dry and thickened skin. While there is no specific or curative treatment for EKVP, various treatments can help manage the symptoms.

• Topical Keratolytics: Topical keratolytic agents such as urea, salicylic acid, and propylene glycol can be used to remove the thickened skin and improve hyperkeratosis [5].
• Systemic Retinoids: Low-dose systemic retinoid may be beneficial in treating EKVP, although its effectiveness is limited by potential side effects [2].
• Emollients: Emollients are often used to manage symptoms of EKVP. A combination of lactic acid 5 or 12% and urea 10% emollient has been found to be effective, although it may cause irritation, especially in children [9].

It's essential to note that treatment for EKVP is symptomatic, and the goal is to manage the symptoms rather than cure the condition. Minimizing temperature changes and mechanical friction can also help alleviate symptoms.

References: [1] Not applicable [2] by A Ishida-Yamamoto · 2016 · Cited by 41 — [3] Not applicable [4] There is no specific or curative treatment for erythrokeratoderma. Minimising temperature changes and mechanical friction is important. Symptomatic improvement ... [5] by AS Karadag · 2013 · Cited by 17 — The erythematous patches of EKV can be treated with topical corticosteroids. Hyperkeratotic lesions usually show a good response to retinoids, however, the ... [6] Not applicable [7] Erythrokeratoderma is an umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. [8] Knowledge on rare diseases and orphan drugs. COVID-19 & Rare diseases ... Management and treatment. Treatment is symptomatic. Emollients are often used ... [9] Mar 13, 2019 — A combination of lactic acid 5 or 12% and urea 10% emollient is effective, although is limtited by its irritation, especially for children. [10] Not applicable

Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. The differential diagnosis for EKVP includes other diseases with erythematous and hyperkeratotic lesions such as:

• KID syndrome
• Keratoderma hereditarium mutilans
• Plaque Psoriasis
• Annular epidermolytic ichthyosis
• Ichthyosis linearis circumflexa (Netherton syndrome)
• Progressive symmetric erythrokeratoderma (PSEK)

These conditions can present with similar symptoms to EKVP, such as well-demarcated erythematous lesions and hyperkeratotic plaques. However, each condition has its own unique characteristics that can help distinguish it from EKVP.

Key points to consider:

• KID syndrome is a rare genetic disorder characterized by skin lesions, hair loss, and intellectual disability.
• Keratoderma hereditarium mutilans is a type of keratosis that presents with hyperkeratotic plaques on the palms and soles.
• Plaque Psoriasis is a common skin condition characterized by red, scaly patches on the skin.
• Annular epidermolytic ichthyosis is a rare genetic disorder characterized by blistering skin lesions.
• Ichthyosis linearis circumflexa (Netherton syndrome) is a rare genetic disorder characterized by scaling skin lesions and hair loss.

References:

• [4] Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy.
• [5] Differential diagnosis includes other diseases with erythematous and hyperkeratotic lesions such as KID syndrome, keratoderma hereditarium mutilans with ...
• [7] Erythrokeratodermia is a group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques.
• [8] Progressive symmetric erythrokeratoderma (PSEK) and erythokeratodermia variabilis et progressiva (EKVP) are the most common forms of erythrokeratoderma.