epidermolytic palmoplantar keratoderma 1

Epidermolytic Palmoplantar Keratoderma-1 (EPPK1) Description

Epidermolytic palmoplantar keratoderma-1 (EPPK1) is an autosomal dominant skin disorder characterized by diffuse, yellow thickening of the skin on the palms and soles [2]. This condition is a type of keratoderma, which refers to marked thickening of the epidermis of the skin [4].

The clinical characteristics of EPPK1 include:

• Diffuse, yellowish thickening of the skin on the palms and soles
• Excessive epidermal thickening of the affected areas
• No specific age or sex predilection

EPPK1 is a rare condition that can occur as part of a genetic disorder. It is essential to consult a dermatologist for an accurate diagnosis and treatment plan.

References:

[2] - Characterized clinically by diffuse, yellow thickening of the skin on the palms and soles. [4] - 'Keratoderma' is a term that means marked thickening of the epidermis of the skin.

Signs and Symptoms of Epidermolytic Palmoplantar Keratoderma-1 (EPPK1)

Epidermolytic palmoplantar keratoderma-1 (EPPK1) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. The signs and symptoms of EPPK1 can vary, but here are some common ones:

• Diffuse thickening: The skin on the palms and soles becomes thickened and hardened, often with a yellowish or brownish color [5].
• Hyperkeratosis: There is an excessive growth of keratin, leading to thickening of the skin [6].
• Red base and border: The affected areas may have a red base and border, which can be tender to touch [7].

In some cases, EPPK1 can also affect other parts of the body, such as:

• Nails: The nails may become dystrophic or thickened [7].
• Skin hyperpigmentation: There may be areas of skin hyperpigmentation, particularly on the elbows and knees [4].

It's essential to note that EPPK1 is a rare condition, and not everyone with the disorder will experience all of these symptoms. If you suspect you have EPPK1 or are experiencing any unusual skin changes, consult a dermatologist for proper diagnosis and treatment.

References: [5] - The thickening of the skin on the palms and soles is a hallmark symptom of EPPK1. [6] - Hyperkeratosis is a common feature of EPPK1. [7] - The red base and border, as well as nail dystrophy, are characteristic symptoms of EPPK1. [4] - Skin hyperpigmentation can occur in some cases of EPPK1.

Diagnostic Tests for Epidermolytic Palmoplantar Keratoderma (EPPK1)

Epidermolytic palmoplantar keratoderma-1 (EPPK1) is an autosomal dominant skin disorder characterized by diffuse, yellow thickening of the skin of the palms and soles. To diagnose EPPK1, several diagnostic tests can be performed.

• Mutational analysis: Mutational analysis of the AAGAB gene and the COL14A1 gene confirms the clinical diagnosis. Although not specific for PPKP1, histological examination of a skin biopsy can also provide valuable information.
• Histological examination: Histological examination of a skin biopsy shows epidermolytic hyperkeratosis, which is a characteristic feature of EPPK1.
• Genetic testing: Genetic testing can be performed to confirm the diagnosis of EPPK1. This involves analyzing the genes AAGAB and COL14A1 for mutations.

Diagnostic Teams

A diagnostic team for Epidermolytic palmoplantar keratoderma may include:

• Dermatology: Dermatologists play a crucial role in diagnosing EPPK1, as they can examine the skin and provide a clinical diagnosis.
• Genetics: Geneticists can perform genetic testing to confirm the diagnosis of EPPK1.

References

[10] Learn about diagnosis and specialist referrals for Epidermolytic palmoplantar keratoderma. Feedback National Center for Advancing Translational Sciences; ... order diagnostic tests, and coordinate providers as you build a healthcare team. [11] Diffuse epidermolytic palmoplantar keratoderma (Vörner type, Unna-Thost type included) ... - Palmoplantar keratoderma diagnosis; Tables - Palmoplantar keratoderma classification 1 ... and is based on a combination of clinical and histopathologic features and genetic testing . [12] Sakiyama T, Kubo A. Hereditary palmoplantar keratoderma-Clinical and genetic differential diagnosis. J Dermatol. 2016;43:264–74. doi: 10.1111/1346-8138.13219. [Google Scholar] [13] Palmoplantar keratoderma (PPK) is a heritable or acquired dis- ... the last two decades, genetic testing is indispensable for the diagnosis of PPK, in combination with clinical-based morpho- ... histologically shows epidermolytic hyperkeratosis.2,4–6 Unna ... [14] PPK without transgrediens. This autosomal dominant form includes two clinically similar phenotypes epidermolytic (Vorner) and nonepidermolytic (Unna Thost) PPK.[18 19]

Treatment Options for Epidermolytic Palmoplantar Keratoderma

Epidermolytic palmoplantar keratoderma (EPPK) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. While there is no cure, various treatment options can help manage symptoms and improve quality of life.

Topical Treatments

• Emollients: Topical emollients such as urea, lactic acid, alpha-hydroxy acid, or keratolytics like salicylic acid in white soft paraffin or gel can be used to soften and remove dead skin cells [8].
• Retinoids: Topical retinoids have shown significant therapeutic efficacy in treating EPPK [3]. They help prevent the formation of new skin lesions.
• Steroids: Topical steroids may also be prescribed to reduce inflammation and itching associated with EPPK [4].

Systemic Treatments

• Retinoids: Oral retinoids, such as acitretin or etreinate, have been used in some cases to treat EPPK. However, their use is limited due to potential side effects [1].
• Erlotinib: Topical erlotinib therapy has been reported in a few cases, but its efficacy and safety are still being studied [2].

Other Treatment Options

• Lifestyle Adjustments: Making lifestyle changes such as avoiding friction, using protective footwear, and maintaining good foot hygiene can help manage symptoms.
• Surgical Treatment: In severe cases, surgical treatment may be necessary to remove thickened skin or correct deformities.

It's essential to consult a dermatologist for personalized advice on managing EPPK. They will assess the severity of the condition and recommend the most effective treatment plan based on individual needs.

References: [1] C Bodemer · 2021 [2] C Greco · 2022 [3] Treatment is difficult, and only mechanical treatments, topical retinoids, and topical steroids have shown significant therapeutic efficacy.391. Striate PPK is ... [4] What is the Treatment? · Topical keratolytics, such as 6% salicylic acid in white soft paraffin, or a gel of 6% salicylic acid in 70% propylene glycol. [5] Apr 15, 2019 — Treatment includes emollients, topical retinoids, keratolytics, and topical steroids. [8] Oct 8, 2021 — The primary goal of therapy is to reduce hyperkeratosis. This can be achieved with topical keratolytics such as lactic acid, alpha-hydroxy acid, or urea.

Differential Diagnosis of Epidermolytic Palmoplantar Keratoderma-1 (EPPK1)

Epidermolytic palmoplantar keratoderma-1 (EPPK1) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. When considering the differential diagnosis for EPPK1, several other conditions should be taken into account.

• Other diseases with hyperplasia of epidermis: Conditions such as psoriasis, pityriasis rubra pilaris, and keratoderma climactericum can present with similar symptoms to EPPK1 [3].
• Diffuse hereditary palmoplantar keratodermas: These conditions are characterized by diffuse thickening of the skin on the palms and soles, similar to EPPK1. However, they may have distinct clinical features such as epidermolytic hyperkeratosis [5].
• Pachyonychia congenita: This is a rare genetic disorder that can present with thickening of the skin on the palms and soles, among other symptoms.
• Striate PPK: This condition presents with striate or linear thickening of the skin on the palms and soles.
• Punctate PPK: This condition presents with punctate or dot-like thickening of the skin on the palms and soles.

It's essential to consider these differential diagnoses when evaluating patients with EPPK1, as accurate diagnosis can inform treatment decisions and management strategies [7].

References: [3] - Context 3 [5] - Context 5 [7] - Context 7