epidermolytic palmoplantar keratoderma

Epidermolytic Palmoplantar Keratoderma (EPPK): A Rare Skin Disorder

Epidermolytic palmoplantar keratoderma, also known as Vörner type, is a rare and non-syndromic hereditary skin disorder characterized by sharply circumscribed congenital thickening of the epidermis on the palms and soles [2]. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder.

Key Features

• Diffuse, yellowish, thick hyperkeratosis (thickening of the skin) on the palms and soles
• Sharply circumscribed congenital thickening of the epidermis
• Autosomal dominant inheritance pattern

Causes and Genetics

Epidermolytic palmoplantar keratoderma is caused by mutations in the KRT9 gene, which codes for a protein that plays a crucial role in skin cell development [6]. The mutation leads to abnormal thickening of the skin on the palms and soles.

Symptoms and Diagnosis

Patients with EPPK typically present with diffuse thickening of the skin on the palms and soles, accompanied by yellow discoloration and erythematous (red) margins. Mutations in the KRT9 gene are identified through genetic testing [8].

Classification and Grouping

Palmoplantar keratodermas, including EPPK, are a group of disorders characterized by thickening of the skin on the palms and soles of affected individuals [9]. These conditions are heterogeneous and can be inherited or acquired.

References: [1] Not applicable [2] Context 2 [3] Not applicable [4] Context 4 [5] Context 5 [6] Context 6 [7] Not applicable [8] Context 8 [9] Context 9

Epidermolytic Palmoplantar Keratoderma (EPPK) Signs & Symptoms

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 EPPK can vary, but here are some common ones:

• Diffuse, yellow thickening of the skin: This is one of the hallmark features of EPPK, where the skin on the palms and soles becomes thickened and yellowish in color [5].
• Hyperhidrosis: People with EPPK often experience excessive sweating (hyperhidrosis) on their palms and soles, which can lead to skin fissuring and maceration [1].
• Skin fissuring and maceration: The constant moisture from hyperhidrosis can cause the skin to crack and become soft, leading to further complications [1].
• Associated odor: In some cases, an unpleasant odor may be present due to the accumulation of sweat and other substances on the affected skin [1].

It's essential to note that EPPK is a rare condition, and not everyone will experience all of these symptoms. If you suspect you or someone else has EPPK, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Context result 1: Even, widespread thickening over the palms and soles. [5] - Context result 5: Epidermolytic palmoplantar keratoderma-1 (EPPK1) is an autosomal dominant skin disorder characterized clinically by diffuse, yellow thickening of the skin...

Diagnostic Tests for Epidermolytic Palmoplantar Keratoderma

Epidermolytic palmoplantar keratoderma (EPPK) is a genetic disorder that affects the skin on the palms and soles. Diagnosing EPPK can be challenging, but several diagnostic tests can help confirm the condition.

• Genetic Testing: Genetic testing is a crucial step in diagnosing EPPK. It involves analyzing DNA samples from affected individuals to identify mutations in the KRT16 or KRT6C genes [9]. This test can also rule out other genetic disorders that may present with similar symptoms.
• Skin Biopsy: A skin biopsy, particularly from the palm or sole, can help confirm the diagnosis of EPPK. The biopsy sample is examined under a microscope to look for characteristic features such as epidermal thickening and hyperkeratosis [7].
• Clinical Evaluation: A thorough clinical evaluation by a dermatologist or geneticist is essential in diagnosing EPPK. This involves examining the affected individual's skin, medical history, and family history to rule out other conditions that may present with similar symptoms.
• Imaging Studies: Imaging studies such as X-rays or ultrasound may be ordered to rule out other conditions that may cause thickening of the skin on the palms and soles.

Diagnostic Teams

A diagnostic team for EPPK may include:

• Dermatologists: Specialized in diagnosing and treating skin disorders.
• Geneticists: Expertise in genetic disorders, including those affecting the skin.
• Pathologists: Analyze biopsy samples to confirm the diagnosis.

It's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan.

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: Regular use of moisturizing creams and ointments can help soften and reduce keratotic lesions [8].
• Keratolytics: Topical agents such as urea or salicylic acid can help break down and remove excess skin cells, reducing hyperkeratosis [5].
• Topical retinoids: Derivatives of vitamin A, topical retinoids can help prevent keratinization and reduce thickening of the skin [3].

Systemic Treatments

• Oral retinoids: Currently, oral retinoids are considered the recommended treatment for EPPK [4].
• Other systemic treatments: While not specifically mentioned in the context, other systemic treatments such as biologics or immunomodulators may be explored on a case-by-case basis.

Mechanical Treatments

• Pain management: Topical anesthetics or pain-relieving creams can help manage discomfort and pain associated with EPPK [2].

It's essential to note that treatment for EPPK is often individualized and may involve a combination of the above-mentioned therapies. A healthcare professional should be consulted to determine the best course of treatment.

References: [1] Not applicable [2] Cited by 2 - Topical 0.2% erlotinib therapy was initiated on 10 July 2019, consisting of 1 g of erlotinib cream applied twice a day on the right foot. [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. 3) Mutilating Palmoplantar keratoderma with periorificial keratotic plaques. (Also known as ... [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 ... [7] Not applicable [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 is a rare genetic disorder characterized by thickening of the skin on the palms and soles. When considering the differential diagnosis for this condition, several other conditions should be taken into account.

• Other congenital ichthyoses: Conditions such as epidermolysis bullosa simplex, ichthyosis vulgaris, and lamellar ichthyosis can present with similar symptoms to epidermolytic palmoplantar keratoderma [7].
• Vesiculobullous and erosive disorders: Conditions such as bullous pemphigoid, dermatitis herpetiformis, and linear IgA disease can also be considered in the differential diagnosis [7].
• Syndromic conditions: Certain syndromes, such as epidermolytic hyperkeratosis, can present with similar skin manifestations to epidermolytic palmoplantar keratoderma [7].

It's essential to note that a comprehensive evaluation and diagnostic workup are necessary to accurately diagnose epidermolytic palmoplantar keratoderma. This may involve genetic testing, histopathological examination of skin biopsies, and clinical assessment by a dermatologist.

References:

• [1] Context result 7
• [2] Context result 3