erythrokeratodermia variabilis et progressiva 3

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 the formation of gap junctions between skin cells, and mutations in these genes can disrupt this process, leading to the characteristic skin lesions associated with EKVP.

The symptoms of EKVP typically include:

• Fixed hyperkeratotic plaques: These are thickened areas of skin that are rough to the touch.
• Transient erythematous patches: These are red patches on the skin that appear and disappear over time.
• The condition is usually present at birth or becomes apparent in infancy.

It's worth noting that EKVP is a rare disorder, and its symptoms can vary widely from person to person. However, the presence of fixed hyperkeratotic plaques and transient erythematous patches are key features of this condition.

References:

• [2] Erythrokeratodermia variabilis et progressiva (EKVP) is a rare inherited skin disease characterized by fixed hyperkeratotic plaques and transient erythematous patches. EKVP is most often transmitted in an autosomal dominant manner.
• [3] Causal mutations responsible for EKVP have been found in the GJB3, GJB4, and GJA1 genes, which encode connexins 31, 30.3, and 43, respectively.
• [10] Description of erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features: hyperkeratosis and transient erythematous patches.
• [13] Erythrokeratodermia variabilis (EKV) is a rare genetic skin disorder first described by the Dutch dermatologist Mendes da Costa in 1925. As reflected by this name, EKV is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape and location.

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin disorder characterized by severe lesions of thick scaly skin. The signs and symptoms of EKVP can vary, but they typically include:

• Severe lesions: Thick, scaly skin lesions that can appear on the face, genitals, and other areas of the body.
• Skin thickening: Hyperkeratosis, a condition where the skin becomes thickened and rough to the touch.
• Erythema: Red or yellow-brown patches on the skin, which may be transient or persistent.

According to [9], EKVP is characterized by severe lesions of thick scaly skin on the face and genitals, as well as other areas. The condition can also cause skin thickening and erythema, which are two major features of EKVP (see [5] and [8]).

In some cases, patients may experience birth erythema, where red patches appear at birth or shortly after (see [3]). The lesions associated with EKVP can be well-demarcated and symmetrically arranged on the body.

It's worth noting that the signs and symptoms of EKVP can vary from person to person, and not everyone will exhibit all of these features. However, in general, EKVP is characterized by severe skin lesions, skin thickening, and erythema.

References: [3] - Erythema at birth has been described. [5], [8] - Although its signs and symptoms vary, the condition is characterized by two major features: hyperkeratosis and transient erythema. [9] - EKVP is characterized by severe lesions of thick scaly skin on the face and genitals.

Erythrokeratodermia variabilis et progressiva (EKVP) can be diagnosed based on clinical features, and molecular genetic testing is available to confirm the diagnosis.

Clinical Features: The condition is characterized by two major features: * Hyperkeratosis, which is rough, thickened skin * Erythema, which are reddish-brown patches that can affect various parts of the body

These symptoms can vary in severity and presentation, but they are often present at birth or become apparent in infancy.

Molecular Genetic Testing: 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. This test can help confirm the diagnosis of EKVP and provide information on the genetic basis of the condition.

Other Diagnostic Tests: While not specifically mentioned in the context provided, other diagnostic tests such as skin biopsies may also be used to support the diagnosis of EKVP. However, these would likely be used in conjunction with clinical evaluation and molecular genetic testing.

References: * [3] Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. * [1] The diagnosis of erythrokeratodermia variabilis et progressiva (EKVP) is established on the basis of clinical features. Molecular genetic testing for sequence variants in the GJB3, GJB4, and GJA1 genes is available (also as next-generation sequencing panel) and expected to yield a positive result in at least two thirds of patients. * [12] Definition. The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997).

Treatment Options for Erythrokeratodermia Variabilis Et Progressiva

Erythrokeratodermia variabilis et progressiva (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 Treatments

• Topical corticosteroids may be used to treat the erythematous patches of EKVP [6].
• Keratolytics such as urea, salicylic acid, and propylene glycol can be effective in removing the thickened skin [4].

Systemic Retinoids

• Systemic retinoids are considered the treatment of choice for EKVP, particularly for patients with hyperkeratotic lesions [2].
• Low-dose systemic retinoid may be used to improve symptoms in some cases [2].

Other Treatments

• Minimizing temperature changes and mechanical friction is essential to prevent exacerbation of symptoms [5].
• A combination of lactic acid 5 or 12% and urea 10% emollient has been found effective, although it may cause irritation, especially in children [8].

It's worth noting that the effectiveness of these treatments can vary from person to person, and a healthcare professional should be consulted for personalized advice.

Differential Diagnosis of Erythrokeratodermia Variabilis Et Progressiva (EKVP)

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genetic skin disorder characterized by the coexistence of hyperkeratosis and transient erythema. When considering the differential diagnosis for EKVP, several other conditions with similar symptoms should be taken into account.

• KID Syndrome: Also known as Keratitis-ichthyosis-deafness syndrome, KID is a rare genetic disorder that affects the skin, eyes, and ears. It presents with erythematous lesions, hyperkeratotic plaques, and hearing loss.
• Keratoderma Hereditarium Mutilans: This condition is characterized by thickening of the skin on the palms and soles, as well as other areas of the body. It can present with similar symptoms to EKVP, including erythematous lesions and hyperkeratotic plaques.
• Ichthyosis Linearis Circumflexa (Netherton Syndrome): This is a rare genetic disorder that affects the skin, presenting with erythematous lesions, hyperkeratotic plaques, and a characteristic "cigarette paper" appearance.

These conditions should be considered in the differential diagnosis for EKVP, as they can present with similar symptoms. A thorough medical evaluation and diagnostic testing are necessary to accurately diagnose EKVP and rule out other potential causes of these symptoms.

References:

• [3] Oct 1, 2018 — Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy.
• [4] Differential diagnosis includes other diseases with erythematous and hyperkeratotic lesions such as KID syndrome, keratoderma hereditarium mutilans with ...
• [9] by S Duchatelet · 2015 · Cited by 18 — The hallmark of EKVP is the continual occurrence of transient, sharply outlined, figurate red patches of variable intensity that fade within a few hours or days ...