erythrokeratodermia variabilis et progressiva 2

Erythrokeratodermia variabilis et progressiva-2 (EKVP2) is a rare genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and erythema. This condition is part of the broader group of erythrokeratoderma disorders, which are inherited skin diseases affecting keratinization.

Key Features:

• Persistent hyperkeratotic plaques
• Generalized hyperkeratosis and erythema
• Part of the erythrokeratodermia variabilis et progressiva (EKVP) spectrum

Prevalence and Impact: EKVP2 is a rare condition, with limited information available on its prevalence. Patients with EKVP2 typically have a normal life expectancy, but the condition can significantly impact their quality of life due to its chronic nature.

References:

• [4] Erythrokeratodermia variabilis et progressiva-2 (EKVP2) is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and ...
• [7] The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, ...

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

• Hyperkeratosis: This refers to the rough, thickened skin that develops concurrently or over time. It can be generalized or localized, appearing as red or yellow-brown patches.
• Transient erythematous areas: These are areas of transient reddening of the skin that vary in size, shape, and location. The redness can be triggered by various factors.

In addition to these major features, EKVP may also present with:

• Fixed hyperkeratosis patches: These are thickened skin patches that remain fixed in place.
• Erythematous areas: These are areas of reddening of the skin that can appear suddenly and resolve on their own.

It's worth noting that the signs and symptoms of EKVP can vary widely from person to person, even within the same family. The condition is often characterized by its unpredictable nature, with symptoms appearing and disappearing at random.

References:

• [1] Erythrokeratodermia variabilis et progressiva (EKVP) is a chronic skin disorder without other organ manifestations; patients have a normal life expectancy.
• [5] Although its signs and symptoms vary, the condition is characterized by two major features. The first is hyperkeratosis, which is rough, thickened skin ...
• [6] 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, ...
• [7] Although its signs and symptoms vary, the condition is characterized by two major features. The first is hyperkeratosis, which is rough, thickened skin ...
• [8] The major features include fixed hyperkeratosis patches and transient erythematous areas that vary in size, shape, and location.

Erythrokeratodermia variabilis et progressiva 2 (EKVP2) is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and erythema. Diagnostic testing for EKVP2 involves identifying the underlying genetic mutation.

Available Genetic Tests

According to search results, molecular diagnostic testing for mutations in the connexin genes GJB3 and GJB4 is available [1]. This type of analysis can help identify the specific genetic variant responsible for EKVP2.

Diagnostic Approach

The diagnosis of EKVP2 is based on the presence of characteristic clinical features. While histopathological features are non-specific, light microscopy may be used to confirm the presence of EKVP in some cases [5].

Genetic Testing

A DNA sample via blood and skin biopsy can be sent for genetic testing, which can identify a pathogenic variant in the gap junction protein alpha 1 (GJA1) gene, among others. This type of testing is crucial for confirming the diagnosis of EKVP2 [9].

In summary, diagnostic tests for erythrokeratodermia variabilis et progressiva 2 include:

• Molecular diagnostic testing for mutations in the connexin genes GJB3 and GJB4
• Genetic testing via DNA sample from blood and skin biopsy
• Histopathological examination (light microscopy) to confirm clinical features

References: [1] May 17, 2022 — Molecular diagnostic testing for mutations in the connexin genes GJB3, GJB4, and GJA1 is available. [5] May 17, 2022 — Erythrokeratodermia variabilis (EKV) is a rare genetic skin disorder listed in Online Mendelian Inheritance in Man (OMIM) # 133200. [9] A DNA sample via blood and skin biopsy was sent for genetic testing, the results of which identified a pathogenic variant in the gap junction protein alpha 1 ...

Treatment Options for Erythrokeratodermia Variabilis Et Progressiva 2 (EKVP2)

Erythrokeratodermia variabilis et progressiva 2 (EKVP2) is a rare genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. While there is no specific or curative treatment for EKVP2, various symptomatic treatments can help manage the condition.

• Topical Keratolytics: Topical keratolytics such as urea, salicylic acid, and lactic acid are often used to treat hyperkeratotic lesions in EKVP2. These medications can help soften and remove dead skin cells, reducing the thickness of the skin (8).
• Emollients: Emollients are commonly used to manage dryness and irritation associated with EKVP2. They can be applied topically to help lock in moisture and soothe the skin (6).
• Systemic Retinoids: In some cases, systemic retinoids may be prescribed to treat hyperkeratotic lesions in EKVP2. However, their effectiveness can vary, and they may not be suitable for all patients (3, 7).
• Combination Therapy: A combination of lactic acid 5 or 12% and urea 10% emollient has been found to be effective in managing EKVP2 symptoms, although it may cause irritation, especially in children (9).

It is essential to note that treatment for EKVP2 can be challenging, and the effectiveness of these treatments may vary from person to person. A healthcare professional should be consulted for personalized advice and treatment.

References: (8) - by A Ishida-Yamamoto · 2016 · Cited by 41 (3) - by AS Karadag · 2013 · Cited by 17 (7) - by VK Mahajan · 2015 · Cited by 13 (9) - Mar 13, 2019 (14)

Based on the search results, I can provide information on the differential diagnosis of erythrokeratodermia variabilis et progressiva (EKVP).

Other diseases with similar symptoms:

• KID syndrome (keratitis-ichthyosis-deafness syndrome): This is a rare genetic disorder that affects the skin, eyes, and ears. It can cause similar symptoms to EKVP, such as erythematous lesions and hyperkeratotic plaques.
• Keratoderma hereditarium mutilans: This is another rare genetic disorder that affects the skin, causing thickening and hardening of the skin on the palms and soles. It can also cause similar symptoms to EKVP.

Key differences:

• KID syndrome typically involves keratitis (inflammation of the cornea) and hearing loss, which are not typically seen in EKVP.
• Keratoderma hereditarium mutilans primarily affects the skin on the palms and soles, whereas EKVP can affect any area of the body.

Other conditions to consider:

• Erythema multiforme: This is a skin condition characterized by target-shaped lesions that can be similar in appearance to those seen in EKVP.
• Pityriasis rubra pilaris: This is a rare genetic disorder that affects the skin, causing redness and scaling.

Genetic testing:

• Genetic testing for EKVP typically involves analyzing the GJB3, GJB4, and GJA1 genes. Mutations in these genes can confirm the diagnosis of EKVP.
• However, it's essential to note that genetic testing may not always be necessary or possible, especially if the clinical presentation is typical of EKVP.

Consultation with a dermatologist:

• A consultation with a dermatologist experienced in rare skin disorders is crucial for accurate diagnosis and differential diagnosis of EKVP. They can evaluate the patient's symptoms, medical history, and physical examination findings to determine the most likely diagnosis.

Please note that this information is based on the search results provided and may not be comprehensive or up-to-date. A thorough evaluation by a dermatologist is essential for an accurate diagnosis and treatment plan.