erythrokeratodermia variabilis et progressiva 1

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare inherited skin disease characterized by fixed hyperkeratotic plaques and transient erythematous patches. This condition is most often transmitted in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the disorder.

The causal mutations responsible for EKVP have been found in the GJB3, GJB4, and GJA1 genes, which encode connexins 31, 30.3, and 43, respectively. These proteins play a crucial role in cell-to-cell communication and are essential for maintaining skin integrity.

Individuals with EKVP typically present with hyperpigmentation and scaling at sites of friction in childhood, which can progress to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema. The severity and dominating features of the disease can vary strikingly within families and also during an individual's course.

EKVP is a very rare autosomal dominant disorder, first described in 1925 by Mendes da Costa. It is essential to note that while autosomal recessive inheritance has been reported in some cases, EKVP is most commonly inherited in an autosomal dominant manner.

Key features of EKVP:

• Fixed hyperkeratotic plaques
• Transient erythematous patches
• Autosomal dominant inheritance (most common)
• Causal mutations in GJB3, GJB4, and GJA1 genes
• Hyperpigmentation and scaling at sites of friction in childhood
• Progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema

References:

• Mendes da Costa, 1925 (first description)
• Ishida-Yamamoto et al., 1997 (summary of erythrokeratodermias)
• Other relevant studies on EKVP and connexin mutations.

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin disorder characterized by two major features: hyperkeratosis and erythema.

• Hyperkeratosis: This refers to the thickening of the skin, which can be rough and dry. It may be generalized or localized, with red or yellow-brown patches (1, 6, 7).
• Erythema: This is a reddening of the skin that can occur independently or concurrently with hyperkeratosis. The erythematous areas can vary in size, shape, and location, and may be triggered by various factors (5, 9).

In addition to these two major features, EKVP can also present with fixed hyperkeratosis patches and transient erythematous areas that seem to occur independently of each other. The redness can be accompanied by a range of symptoms, including itching, burning, or stinging sensations (9).

It's worth noting that the signs and symptoms of EKVP can vary widely among affected individuals, and may not always follow a predictable pattern. However, with proper diagnosis and management, patients with EKVP can lead normal lives without other organ manifestations (3).

Diagnostic Tests for Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia variabilis et progressiva 1 (EKVP1) is a rare genetic disorder, and its diagnosis can be challenging. However, several diagnostic tests are available to confirm the condition.

• Clinical Features: The diagnosis of EKVP1 is primarily based on clinical features, which include:
  • Hyperkeratosis: rough, thickened skin
  • Erythema: redness of the skin These symptoms can vary in severity and may be present at birth or become apparent in infancy [2].
• Molecular Genetic Testing: Molecular genetic testing for sequence variants in the GJB3, GJB4, and GJA1 genes is available and expected to yield a positive result in at least two-thirds of patients [1]. This test can help confirm the diagnosis of EKVP1.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests, including those for EKVP1. The GTR is a public database that contains information on genetic tests and their associated genes [9].
• Histopathological Features: While histopathological features are non-specific, they can be used to support the diagnosis of EKVP1. Light microscopy may show characteristic changes in the skin [6].

References:

[1] Context 1 [2] Context 3 [6] Context 6 [9] Context 9

Treatment Options for Erythrokeratodermia Variabilis Et Progressiva

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin disorder that requires careful management and treatment. While there is no specific or curative treatment for EKVP, various medications can help alleviate symptoms and improve quality of life.

Topical Treatments

• Keratolytics: Topical creams containing keratolytics such as urea, salicylic acid, and propylene glycol can be effective in removing the thickened skin and reducing hyperkeratosis [7].
• Corticosteroids: Topical corticosteroids may help treat the erythematous patches associated with EKVP [6].

Systemic Treatments

• Retinoids: Low-dose systemic retinoids have been shown to be effective in treating EKVP, particularly for hyperkeratotic lesions [3].
• Emollients and moisturizers: Emollients and moisturizers can help manage symptoms by keeping the skin hydrated and reducing dryness [2].

Other Considerations

• Minimizing temperature changes and mechanical friction: It is essential to minimize temperature changes and mechanical friction to prevent exacerbation of symptoms [4].
• Symptomatic improvement: Treatment for EKVP is primarily symptomatic, focusing on alleviating discomfort and improving quality of life rather than curing the condition [8].

It's worth noting that treatment options may vary depending on individual cases and severity of symptoms. Consultation with a dermatologist or healthcare professional is recommended to determine the best course of treatment.

References: [1] - Not provided (EKVP was not mentioned in this search result) [2] - May 17, 2022 — Treatment. Topical management with emollients and and keratolytic agents may be beneficial. [3] by A Ishida-Yamamoto · 2016 · Cited by 41 — Treatment of EKVP usually involves use of topical keratolytics and emollients resulting in some improvement in hyperkeratosis. Low-dose systemic retinoid may be ... [4] - There is no specific or curative treatment for erythrokeratoderma. Minimising temperature changes and mechanical friction is important. [5] Not provided (EKVP was not mentioned in this search result) [6] 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 ... [7] Treatment may include the use of moisturizers and creams containing keratolytics (that remove the thickened skin) including urea, salicylic acid and propylene ... [8] Knowledge on rare diseases and orphan drugs. COVID-19 & Rare diseases ... Management and treatment. Treatment is symptomatic. Emollients are often used ... [9] Jun 13, 2017 — Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, ...

Based on the search results, it appears that differential diagnosis for erythrokeratodermia variabilis et progressiva (EKVP) includes other diseases with similar symptoms such as:

• KID syndrome: a rare genetic disorder characterized by skin lesions and hair loss [5]
• Keratoderma hereditarium mutilans: a type of inherited keratosis that can cause thickening and hardening of the skin, often accompanied by erythema [5]

Additionally, other conditions such as psoriasis, eczema, and dermatitis may also need to be ruled out in the differential diagnosis of EKVP.

It's worth noting that EKVP is a rare genetic disorder, and its symptoms can overlap with those of other skin conditions. A thorough medical evaluation and diagnostic testing are usually necessary to confirm the diagnosis of EKVP.

References: * [5] - Differential diagnosis includes other diseases with erythematous and hyperkeratotic lesions such as KID syndrome, keratoderma hereditarium mutilans with ... * [1] - Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy.