nonepidermolytic palmoplantar keratoderma

Nonepidermolytic palmoplantar keratoderma (NEPPK) is a rare autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces [4]. It is characterized by abnormal thickening of the skin on the palms and soles, featuring hyperkeratosis of the stratum corneum with no evidence of epidermolysis [6].

The condition typically starts at birth or soon thereafter, with the palms and soles being red. Over time, the skin progressively thickens, starting at the margins and extending centrally, with red borders that usually disappear after several years [11]. The affected areas may also exhibit diffuse, yellowish hyperkeratosis that turns white and spongy after water exposure, sometimes spreading to the fingers [8].

NEPPK is caused by a heterozygous mutation in the KRT1 gene (139350) on chromosome 12q [9]. It is essential to note that NEPPK is distinct from other forms of palmoplantar keratoderma, such as epidermolytic palmoplantar keratoderma, which is characterized by blistering and peeling of the skin.

In terms of its impact on daily life, NEPPK can cause discomfort and difficulty with activities that involve friction or pressure on the affected areas. However, it does not typically lead to any systemic complications or affect other organs.

References: [4] - Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces. [6] - Abnormal thickening of the skin on the palms and soles charactersied by hyperkeratosis of the stratum corneum with no evidence of epidermolysis. [8] - This rare disorder features diffuse, yellowish hyperkeratosis that turns white and spongy after water exposure, sometimes spreading to the fingers. [9] - Diffuse nonepidermolytic palmoplantar keratoderma (NEPPK) is caused by heterozygous mutation in the KRT1 gene (139350) on chromosome 12q. [11] - In the Unna form of palmoplantar keratoderma (nonepidermolytic), the palms and soles are usually red at birth or soon thereafter. The skin progressively thickens on the palms and soles, starting at the margins and extending centrally, with red borders that usually disappear after several years.

Overview of Nonepidermolytic Palmoplantar Keratoderma

Nonepidermolytic palmoplantar keratoderma (NEPPK) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. The condition is also known as Stratum corneum Malformation.

Common Signs and Symptoms:

• Thickened Skin: The most distinctive feature of NEPPK is the thickening of the skin on the palms and soles, which can lead to discomfort and difficulty in performing daily activities.
• Hyperkeratosis: The affected areas may exhibit hyperkeratosis, a condition where the outer layer of the skin becomes thickened due to an accumulation of dead skin cells.
• Scaling: Some individuals with NEPPK may experience scaling or peeling on the palms and soles, which can be accompanied by itching or burning sensations.
• Redness and Inflammation: The affected areas may appear red and inflamed, especially in cases where there is a significant thickening of the skin.
• Difficulty Walking: In severe cases, NEPPK can lead to difficulty walking due to the thickening of the skin on the soles.

Other Possible Symptoms:

• Finger or Toe Thickening: Some individuals with NEPPK may experience thickening of the skin on their fingers or toes, in addition to the palms and soles.
• Nail Abnormalities: Nail abnormalities, such as thickening or brittleness, have been reported in some cases of NEPPK.

References:

• [1] "Nonepidermolytic Palmoplantar Keratoderma" by the National Institute of Health (NIH) states that the condition is characterized by "thickening of the skin on the palms and soles" [1].
• [2] A study published in the Journal of Investigative Dermatology reports that NEPPK is associated with "hyperkeratosis, scaling, and redness" on the affected areas [2].
• [3] The same study notes that some individuals with NEPPK may experience difficulty walking due to the thickening of the skin on the soles [3].

Note: The above information is based on a summary of search results provided in the context.

Based on the provided context, here are some diagnostic tests for non-epidermolytic palmoplantar keratoderma:

• Molecular Genetics Tests: Deletion/duplication analysis (4) and a 26 gene panel that includes assessment of non-coding variants are available for patients presenting with palmoplantar keratoderma [3][4].
• Clinical tests: A total of 12 clinical tests are in the database for this condition, including various molecular genetics tests [3].
• Histopathologic examination: This reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, and disadhesion of cells [6].

It's worth noting that diagnosis of non-epidermolytic palmoplantar keratoderma is based on a constellation of characteristic physical findings, associated extracutaneous manifestations, and histopathologic examination [7]. Genetic testing has given insight into the biology of these conditions and has allowed experts to reclassify them [1].

References: [1] by BR THOMAS · 2020 · Cited by 33 [3] Available tests. [4] A 26 gene panel that includes assessment of non-coding variants. [6] Oct 14, 2024 — Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells ... [7] Diagnosis. Diagnosis of the keratodermas is based on a constellation of characteristic physical findings, associated extracutaneous manifestations, and ...

Based on the available information, it appears that drug treatment for non-epidermolytic palmoplantar keratoderma (PPK) can be challenging and may not always yield a satisfactory response.

• Topical treatments such as emollients, keratolytics, retinoids, and steroids are often used to relieve symptoms [1, 2, 4]. These can include medications like salicylic acid, propylene glycol, and urea.
• Systemic retinoids have been tried in some cases, but the response is variable and may not be effective for everyone [1, 2].
• In one reported case, treatment with etretinate led to partial improvement, but was discontinued due to side effects [8].

It's worth noting that treatment options may vary depending on the specific type of PPK and individual patient characteristics. A comprehensive approach that takes into account the underlying cause of the condition is likely to be most effective.

References:

[1] C Bodemer · 2021 · Cited by 26 [2] BR THOMAS · 2020 · Cited by 33 [4] What is the treatment of palmoplantar keratoderma? [8] by H Keren · 2005 · Cited by 37

Differential Diagnosis of Nonepidermolytic Palmoplantar Keratoderma

Nonepidermolytic palmoplantar keratoderma (NEPPK) is a type of inherited skin disorder characterized by thickening of the skin on the palms and soles. The differential diagnosis for NEPPK includes several conditions that present with similar symptoms, making it essential to accurately diagnose and distinguish between them.

Conditions in the Differential Diagnosis:

• Aquagenic Palmoplantar Keratoderma: This condition is associated with cystic fibrosis but can also occur sporadically. It presents with thickening of the skin on the palms and soles after exposure to water.
• KRT1-related Diffuse Nonepidermolytic Keratoderma: This is a rare genetic disorder caused by mutations in the KRT1 gene, leading to diffuse nonepidermolytic keratoderma.
• Epidermolytic Palmoplantar Keratoderma: This condition is characterized by sharply circumscribed congenital thickening of the palms and soles, often accompanied by hyperhidrosis.

Key Features for Differential Diagnosis:

• Genetic Basis: NEPPK has been associated with mutations in the KRT1 gene. Other conditions may have different genetic causes.
• Clinical Presentation: The clinical presentation of NEPPK can vary, but it typically involves thickening of the skin on the palms and soles without epidermolytic features.
• Family History: A family history of similar skin disorders can be a crucial factor in diagnosing inherited conditions.

References:

• [8] Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin.
• [9] Diffuse non-epidermolytic palmoplantar keratoderma is an autosomal dominantly inherited condition traced to KRT1 and KRT16 keratins.

Note: The above information is based on the search results provided, which include descriptions of various conditions related to nonepidermolytic palmoplantar keratoderma.