focal or diffuse nonepidermolytic palmoplantar keratoderma

Focal or Diffuse Nonepidermolytic Palmoplantar Keratoderma (PPKNEFD) is a rare genetic disorder characterized by the formation of hyperkeratotic plaques on the palms and soles. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease.

Key Features:

• Hyperkeratotic Plaques: Thickened patches of skin on the palms and soles, which can be focal (limited to specific areas) or diffuse (widespread).
• Mild Nail Changes: Some patients may experience mild changes in their nails, such as brittleness or thinning.
• Severe Pain: The condition can cause significant pain due to the formation of plaques and blistering.

Genetic Basis:

• Keratin 6c Mutation: A mutation in the KRT6C gene has been identified as a cause of diffuse and focal palmoplantar keratoderma.
• Autosomal Dominant Inheritance: The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease.

References:

• [3] describes PPKNEFD as an autosomal dominant skin disorder characterized by hyperkeratotic plaques on palms and soles.
• [13] mentions that focal or diffuse nonepidermolytic palmoplantar keratoderma (PPKNEFD) is an autosomal dominant skin disorder in which hyperkeratotic plaques form on palms and soles.
• [15] states that a keratin 6c mutation can cause diffuse and focal palmoplantar keratoderma.

Note: The numbers in square brackets refer to the search results provided in the context.

Based on the search results, here are the signs and symptoms of focal or diffuse non-epidermolytic palmoplantar keratoderma:

• Focal involvement: The condition mainly affects pressure areas, such as the palms and soles. [1]
• Diffuse involvement: A diffuse or localized thickening of the palms and soles is observed, which may occur as part of a genetic disorder or as an inflammatory disorder. [3]
• Even, widespread thickened skin (keratosis): The condition results in even, widespread thickened skin over the palms and soles. [2]
• Red band at the edges: A red band at the edges of the keratosis is frequent. [2]
• Diffuse, verrucous thickening: Diffuse, verrucous thickening of soles and mild palmar involvement is noted. [5]

It's worth noting that these symptoms can vary depending on the individual case, but in general, focal or diffuse non-epidermolytic palmoplantar keratoderma presents with a range of skin thickening and redness on the palms and soles.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [5] - Context result 5

Based on the search results, it appears that diagnostic tests for focal or diffuse nonepidermolytic palmoplantar keratoderma (PPK) are crucial in confirming the diagnosis. Here's a summary of the relevant information:

• A 26 gene panel that includes assessment of non-coding variants is ideal for patients presenting with palmoplantar keratoderma [4].
• Clinical features such as age of onset, palmoplantar pain and/or blistering, sweating and infection should be considered in an initial approach to PPK diagnosis [9].
• Genetic testing may be necessary to confirm the diagnosis, particularly for hereditary forms of PPK.
• A clinical resource is available that provides information on genetic tests from US labs and around the world, as well as practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, and PharmGKB [10].

Some specific diagnostic tests that may be used to diagnose focal or diffuse nonepidermolytic PPK include:

• Genetic testing for mutations in genes such as KRT6C
• Histopathological examination of skin biopsies to rule out other conditions
• Clinical evaluation by a dermatologist or geneticist to assess the presence and severity of symptoms

It's worth noting that a diagnosis of PPK can be challenging, and a combination of clinical features, family history, and genetic testing may be necessary to confirm the diagnosis.

References:

[4] - A 26 gene panel that includes assessment of non-coding variants is ideal for patients presenting with palmoplantar keratoderma. [9] - An initial approach to PPK is to take a history asking about age of onset, palmoplantar pain and/or blistering, sweating and infection and other clinical features. [10] - A clinical resource is available that provides information on genetic tests from US labs and around the world, as well as practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, and PharmGKB.

Treatment Options for Focal or Diffuse Nonepidermolytic Palmoplantar Keratoderma

Focal or diffuse nonepidermolytic palmoplantar keratoderma (PPK) is a type of skin disorder characterized by thickening of the skin on the palms and soles. While there is no cure for PPK, various treatment options can help manage symptoms and improve quality of life.

Topical Treatments

• Emollients: Emollients are moisturizing creams or ointments that can help soften and smooth out the thickened skin.
• Keratolytic agents: Keratolytic agents, such as salicylic acid, urea, and lactic acid, can help break down and remove excess keratin, reducing the thickness of the skin.
• Topical retinoids: Topical retinoids can help regulate cell growth and reduce the appearance of thickened skin.

Other Treatment Options

• Mechanical debridement: In some cases, mechanical debridement (removing dead skin cells) may be necessary to remove thickened skin.
• Surgical treatment: In severe cases, surgical treatment may be required to remove affected areas or improve mobility.

Specific Treatments for Focal Nonepidermolytic PPK

• Topical keratolytics, such as 6% salicylic acid in white soft paraffin, can be effective in managing focal nonepidermolytic PPK.
• Alitretinoin: Alitretinoin has been shown to be effective in treating severe forms of nonepidermolytic PPK.

Important Considerations

• Treatment options may vary depending on the severity and type of PPK.
• It is essential to consult a dermatologist or healthcare professional for personalized advice and treatment planning.
• Regular follow-up appointments are crucial to monitor progress and adjust treatment plans as needed.

References:

• [10] Park et al. (2020) described a 20-year-old woman with severe nonepidermolytic hPPK who improved with alitretinoin 30 mg daily for 3 months.
• [11] Diffuse nonepidermolytic palmoplantar keratoderma - Diffuse palmoplantar keratoderma caused by DSG1 mutations ... - Palmoplantar keratoderma focal - Pachyonychia congenita feet ...
• [14] Clinical resource with information about Palmoplantar keratoderma nonepidermolytic focal or diffuse and its clinical features, KRT6C, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB.

Differential Diagnosis of Focal or Diffuse Nonepidermolytic Palmoplantar Keratoderma

Focal or diffuse nonepidermolytic palmoplantar keratoderma (PPK) can be challenging to diagnose, as it shares similarities with other skin conditions. The differential diagnosis for this condition includes:

• Pachyonychia Congenita: A genetic disorder characterized by thickening of the nails and skin on the palms and soles.
• Focal PPK: A subtype of PPK that affects specific areas of the skin, such as weight-bearing areas.
• Striate PPK: A rare subtype of PPK characterized by linear or striated lesions on the palms and soles.
• Diffuse PPK caused by DSG1 variants: A genetic disorder that causes diffuse thickening of the skin on the palms and soles.

Key Features to Consider

When considering a differential diagnosis for focal or diffuse nonepidermolytic palmoplantar keratoderma, it is essential to note the following features:

• Age of onset: PPK typically begins in early infancy.
• Clinical presentation: The condition can present with patchy hyperkeratosis, symmetric, diffuse thickening, or localized lesions on the palms and soles.
• Genetic associations: Some subtypes of PPK are associated with specific genetic mutations.

References

[1] (8) Palmoplantar keratoderma is a term used to define a marked thickening of the skin on the palms and soles, either as a focal entity, or diffuse. [2] (11) Diffuse nonepidermolytic palmoplantar keratoderma - Diffuse palmoplantar keratoderma caused by DSG1 mutations ... DIAGNOSIS; DIFFERENTIAL DIAGNOSIS. ... - Palmoplantar keratoderma focal - Pachyonychia congenita feet [3] (14) Clinical resource with information about Palmoplantar keratoderma nonepidermolytic focal or diffuse and its clinical features, KRT6C, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB