epidermolytic palmoplantar keratoderma 2

Epidermolytic Palmoplantar Keratoderma-2 (EPPK2): A Rare Autosomal Dominant Skin Disorder

Epidermolytic palmoplantar keratoderma-2 (EPPK2) is a rare autosomal dominant skin disorder characterized by hyperkeratosis restricted to the palms and soles of affected individuals [1]. This condition is also known as EPPK2, and it is a type of palmoplantar keratoderma.

Key Features:

• Hyperkeratosis: Thickening of the epidermis on the palms and soles
• Autosomal Dominant: The disorder is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition [3]
• Restricted to Palms and Soles: Hyperkeratosis is limited to the skin on the palms and soles, with no involvement of other areas of the body

Other Forms of Palmoplantar Keratoderma:

Palmoplantar keratodermas are a group of disorders characterized by thickening of the skin on the palms of the hands and soles of the feet [6]. EPPK2 is one of several forms of palmoplantar keratoderma, each with distinct characteristics.

References:

[1] Context result 1 [3] Context result 3 [6] Context result 6

Signs and Symptoms of Epidermolytic Palmoplantar Keratoderma 2

Epidermolytic palmoplantar keratoderma 2 (EPPK2) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. The signs and symptoms of EPPK2 can vary in severity, but typically include:

• Diffuse thickening of the skin: The skin on the palms and soles becomes thickened and hardened, often with a yellowish or brownish color [1].
• Hyperkeratosis: A condition where the outer layer of the skin (epidermis) becomes thickened and hardened, leading to a rough, scaly texture [2].
• Red band at the edges: A red band or border may be visible around the areas of thickened skin on the palms and soles [1].

In some cases, EPPK2 can also cause:

• Blistering: Blisters or erosions may form on the affected skin areas due to friction or other factors [6].
• Warty scaling: Warts or scales may develop on the skin, particularly in more severe cases [6].
• Nail abnormalities: The nails may become thickened, discolored, or deformed due to the underlying condition [5].

It's essential to note that the signs and symptoms of EPPK2 can vary from person to person, and not everyone with the condition will experience all of these symptoms. If you suspect you or a family member has EPPK2, it's crucial to consult a medical professional for proper diagnosis and treatment.

References:

[1] Context result 1: "Even, widespread thickened skin (keratosis) over the palms and soles."

[2] Context result 8: "Palmoplantar keratoderma is a term used to define a marked thickening of the skin on the palms and soles..."

[5] Context result 5: "...The nails may be affected by marked dystrophy—"

[6] Context result 6: "...Symptoms may vary from mild blistering upon friction to severe erosions or widespread warty scaling."

Based on the provided context, here are some diagnostic tests associated with Epidermolytic Palmoplantar Keratoderma (EPPK):

• Molecular Genetics Tests: A 26 gene panel that includes assessment of non-coding variants is ideal for patients presenting with palmoplantar keratoderma [4].
• Clinical tests: There are 31 clinical tests available in the database for EPPK, including molecular genetics tests and other related conditions [3].
• Skin biopsy: The epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, is a characteristic feature of EPPK [14].

These diagnostic tests can help confirm the diagnosis of Epidermolytic Palmoplantar Keratoderma and rule out other conditions. It's essential to consult with a dermatologist or geneticist for proper evaluation and testing.

References: [3] - The context mentions that there are 31 clinical tests available in the database for EPPK. [4] - A 26 gene panel is recommended for patients presenting with palmoplantar keratoderma. [14] - Skin biopsy findings, including perinuclear vacuolization, are characteristic of EPPK.

Based on the available information, it appears that there are various treatment options for epidermolytic palmoplantar keratoderma (PPK), but drug treatment is not a primary focus.

However, I can provide some general information on the topic.

• Topical treatments such as emollients, topical retinoids, and keratolytics have shown significant therapeutic efficacy in treating PPK [1][3][5].
• Oral retinoids are currently recommended as the treatment for PPK [4].

It's worth noting that the primary goal of therapy is to reduce hyperkeratosis, which can be achieved through a combination of lifestyle adjustments and topical treatments [6]. Regular use of moisturizing creams and ointments, simple antiseptics, and antifungal cream or tablets may also be beneficial in managing symptoms [8].

However, it's essential to consult with a healthcare professional for personalized advice on treating epidermolytic PPK.

References: [1] C Bodemer · 2021 [3] Treatment is difficult, and only mechanical treatments, topical retinoids, and topical steroids have shown significant therapeutic efficacy.391. Striate PPK is ... [4] Currently the recommended treatment for PPK is Oral retinoids. [5] Apr 15, 2019 — Treatment includes emollients, topical retinoids, keratolytics, and topical steroids. [6] In the authors' experience, initial therapy should include lifestyle adjustments as well as topical emollients and keratolytic agents, with first-line systemic ... [8] Apr 19, 2020 — Regular use of moisturising creams and ointments · The use of simple antiseptics if odour is a problem · Antifungal cream or tablets if fungal ...

Differential Diagnosis of Epidermolytic Palmoplantar Keratoderma

Epidermolytic palmoplantar keratoderma (EPPK) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. When diagnosing EPPK, it's essential to consider other conditions that may present with similar symptoms.

Other Causes of Erythroderma, Bullae/Blisters, or Exfoliation in Childhood

According to [2], the differential diagnosis of epidermolytic hyperkeratosis includes other causes of erythroderma, bullae/blisters, or exfoliation in childhood. These conditions may present with similar symptoms and require careful consideration when diagnosing EPPK.

Other Diseases with Hyperplasia of Epidermis

EPPK is also characterized by sharply circumscribed congenital thickening of the palms and soles [3]. Other diseases with hyperplasia of epidermis, such as ichthyosis, may present with similar symptoms and require differential diagnosis.

Differential Diagnosis & Pitfalls Copy

Palmoplantar keratoderma (PPK) is a heterogeneous group of inherited or acquired disorders characterized by excessive epidermal thickening of the palms and soles [4]. The differential diagnosis for PPK includes other conditions such as ichthyosis, which may present with similar symptoms.

Genetic Heterogeneity of PPK

The genetic heterogeneity of PPK makes differential diagnosis complicated solely based on phenotypical representation [13]. Careful consideration of other conditions, such as epidermolytic hyperkeratosis, is essential when diagnosing EPPK.

References:

[2] - The differential diagnosis of epidermolytic hyperkeratosis includes other causes of erythroderma, bullae/blisters, or exfoliation in childhood. [3] - EPPK is characterized by sharply circumscribed congenital thickening of the palms and soles. [4] - PPK is a heterogeneous group of inherited or acquired disorders characterized by excessive epidermal thickening of the palms and soles. [13] - The genetic heterogeneity of PPK makes differential diagnosis complicated solely based on phenotypical representation.