focal nonepidermolytic palmoplantar keratoderma 2

Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a rare hereditary skin disorder characterized by the development of large, hard, compact, and painful masses of keratin on the feet, palms, and other sites. These lesions typically occur at sites of recurrent friction and are not associated with epidermolysis.

The clinical features of FNEPPK include:

• Large, hard, compact, and painful masses of keratin
• Lesions primarily located on the feet, but also on the palms and other sites
• No evidence of epidermolysis (summary by Kelsell et al., 1995)
• Autosomal dominant inheritance pattern

FNEPPK is a type of palmoplantar keratoderma that affects the skin on the soles of the feet and palms of the hands. It is characterized by focal hyperkeratotic lesions, which are areas of thickened skin.

According to Wilson et al. (2010), FNEPPK has been linked to mutations in the KRT6C gene, which codes for a type of keratin protein. This mutation leads to the formation of abnormal keratin filaments that accumulate and form hard, compact masses on the skin.

In terms of morphology, FNEPPK is classified as a focal/striate or papular/punctate palmoplantar keratoderma (summary by Wilson et al., 2010). This means that it can present with either localized or diffuse lesions on the palms and soles.

Overall, FNEPPK is a rare and distinct form of palmoplantar keratoderma that requires careful clinical evaluation and genetic testing for accurate diagnosis.

Focal non-epidermolytic palmoplantar keratoderma (FNEPPK) is a rare skin disorder characterized by the development of large, hard, compact, painful masses of keratin on the palms and soles. The signs and symptoms of FNEPPK include:

• Large, hard, compact masses of keratin: These masses develop at sites of recurrent friction, particularly on the feet, but also on the palms and other areas.
• Painful lesions: The masses are often painful and can cause discomfort or pain when walking or engaging in other activities.
• No evidence of epidermolysis: Unlike some other forms of palmoplantar keratoderma, FNEPPK does not involve blistering or peeling of the skin.

According to [13], FNEPPK is an autosomal dominant skin disorder that typically presents with large, hard, compact masses of keratin on the feet and palms. The condition can be inherited from a parent who carries the disease variant allele.

It's worth noting that heterozygous carriers (1-2) are not expected to develop signs of FNEPPK, but each of their offspring has a chance of inheriting a disease variant allele [12].

Based on the search results, here are some diagnostic tests that may be relevant for focal non-epidermolytic palmoplantar keratoderma (FNEPPK):

• Clinical tests: Various clinical tests are available to diagnose FNEPPK. These include:
  • Histopathologic examination: This test reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, and disadhesion of cells in the suprabasal layer [6][8].
  • Molecular Genetics Tests: Deletion/duplication analysis (4) is available to diagnose FNEPPK [4].
• Genetic testing: Genetic testing is indispensable for the diagnosis of PPK, including FNEPPK. This can include:
  • A 26 gene panel that includes assessment of non-coding variants, which is ideal for patients presenting with palmoplantar keratoderma [5].

It's worth noting that genetic testing may be necessary to confirm a diagnosis of FNEPPK, especially in cases where the clinical presentation is unclear. However, further information on specific diagnostic tests and their availability would require additional research.

References: [4] - Available tests for this condition [5] - A 26 gene panel for palmoplantar keratoderma [6] - Histopathologic examination of FNEPPK [8] - Histopathologic examination of PPK

Based on the search results, it appears that there are various treatment options available for focal nonepidermolytic palmoplantar keratoderma (PPK). Here's a summary of the relevant information:

• Topical treatments such as keratolytics and emollients can be used to manage symptoms. [13]
• In some cases, patients with focal PPK may benefit from topical treatment using keratolytics and emollients. [14]

It is worth noting that the effectiveness of these treatments may vary depending on the individual case.

As for specific medications, there is limited information available in the search results. However, it has been mentioned that alitretinoin 30 mg daily for 3 months was effective in treating a severe form of diffuse nonepidermolytic palmoplantar keratoderma (Mal de Meleda). [10]

It's also worth noting that treatment options may vary depending on the specific type and severity of the condition. It's always best to consult with a healthcare professional for personalized advice.

References: [13] Context 13 [14] Context 14 [10] Context 10

Focal nonepidermolytic palmoplantar keratoderma (NEPPK) is a rare skin disorder that presents as thickening of the skin on the palms and soles. When considering differential diagnoses for NEPPK, several conditions should be taken into account.

• Pachyonychia Congenita: This genetic disorder is characterized