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focal nonepidermolytic palmoplantar keratoderma 1

Description

Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is a rare autosomal dominant skin disorder characterized by the development of large, hard, compact, and painful masses of keratin at sites of recurrent friction, primarily on the feet, but also on the palms and other areas. These lesions are typically without evidence of epidermolysis.

The clinical features of FNEPPK1 include:

  • Large, hard, compact, and painful masses of keratin
  • Lesions develop at sites of recurrent friction
  • Primarily affects the feet, but can also occur on the palms and other areas
  • No evidence of epidermolysis

FNEPPK1 is a rare genetic disorder that affects the skin's ability to shed dead cells, leading to the accumulation of keratin and the formation of these painful lesions. The exact cause of FNEPPK1 is not fully understood, but it is believed to be related to mutations in specific genes.

According to [summary by Kelsell et al., 1995] (result 2), FNEPPK1 is characterized by large, hard, compact, and painful masses of keratin that develop at sites of recurrent friction. This description matches the clinical features mentioned above.

Additionally, result 3 also describes FNEPPK1 as an autosomal dominant skin disorder characterized by large, hard, compact, and painful masses of keratin that develop at sites of recurrent friction.

Overall, focal nonepidermolytic palmoplantar keratoderma-1 is a rare genetic disorder that affects the skin's ability to shed dead cells, leading to the development of painful lesions on the feet, palms, and other areas.

Additional Characteristics

  • Large, hard, compact, and painful masses of keratin
  • Lesions develop at sites of recurrent friction
  • Primarily affects the feet, but can also occur on the palms and other areas
  • No evidence of epidermolysis
  • A rare genetic disorder that affects the skin's ability to shed dead cells
  • Leading to the development of painful lesions on the feet, palms, and other areas

Signs and Symptoms

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 skin. The signs and symptoms of FNEPPK include:

  • Large, hard, compact masses of keratin: These masses develop at sites of recurrent friction, primarily on the feet, but also on the palms and other areas.
  • Painful cracks and fissures: The hardened footpads can lead to severe discomfort and pain with cracking, which can increase the risk of secondary infections and lameness.
  • Horny protrusions: Horny growths or protrusions can be observed on the affected skin areas.

These symptoms typically develop in infancy and are well-established by 3-4 years of age. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

References:

  • [11] Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction.
  • [15] Signs and symptoms. Clinical signs include thickened and hardened footpads. This can lead to severe discomfort and pain with cracking, which can increase the risk of secondary infections and lameness.

Additional Symptoms

  • * Large, hard, compact masses of keratin
  • * Painful cracks and fissures
  • * Horny protrusions

Diagnostic Tests

Diagnostic Tests for Focal Non-Epidermolytic Palmoplantar Keratoderma

Focal non-epidermolytic palmoplantar keratoderma (FNEPPK) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. Diagnosing this condition can be challenging, but several diagnostic tests are available to confirm the diagnosis.

  • Clinical Evaluation: A thorough clinical evaluation is essential for diagnosing FNEPPK. This includes a detailed medical history, physical examination, and assessment of symptoms such as thickening of the skin on the palms and soles.
  • Histopathologic Examination: Histopathologic examination of a skin biopsy can help confirm the diagnosis of FNEPPK. The examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, and disadhesion of cells in the suprabasal layer [5][7].
  • Molecular Genetics Tests: Molecular genetics tests such as deletion/duplication analysis can help identify genetic mutations associated with FNEPPK. A 26-gene panel that includes assessment of non-coding variants is ideal for patients presenting with palmoplantar keratoderma [4].
  • Genetic Testing: Genetic testing is indispensable for the diagnosis of PPK, in combination with clinical-based morpho-phenotypic evaluation [13].

It's essential to note that a definitive diagnosis of FNEPPK can only be made through a combination of these diagnostic tests and a thorough clinical evaluation.

References: [4] - A 26-gene panel that includes assessment of non-coding variants is ideal for patients presenting with palmoplantar keratoderma. [5] - Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, and disadhesion of cells in the suprabasal layer. [7] - Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, and disadhesion of cells in the suprabasal layer. [13] - Genetic testing is indispensable for the diagnosis of PPK, in combination with clinical-based morpho-phenotypic evaluation.

Additional Diagnostic Tests

  • Clinical Evaluation
  • Genetic Testing
  • Histopathologic Examination
  • Molecular Genetics Tests

Treatment

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:

  • Emollients: Emollients can be used to help soften and moisturize the skin affected by PPK. This can help reduce the thickness and roughness of the skin.
  • Topical retinoids: Topical retinoids have been shown to be effective in treating focal nonepidermolytic PPK. They work by promoting cell turnover and reducing the thickness of the skin.
  • Keratolytics: Keratolytics, such as urea or salicylic acid, can also be used to help break down and remove the thickened skin cells associated with PPK.
  • Topical steroids: Topical steroids may be prescribed to reduce inflammation and itching associated with PPK.

It's worth noting that the most effective treatment for focal nonepidermolytic PPK may vary depending on individual cases, and a healthcare professional should be consulted for personalized advice.

Recommended Medications

  • Topical steroids
  • Emollients
  • Keratolytics
  • Topical retinoids

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Focal nonepidermolytic palmoplantar keratoderma (NEPPK) is a rare skin disorder that presents with 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 by hypertrophic nail dystrophy, painful palmoplantar keratoderma, and blistering. It often presents with similar symptoms to NEPPK, making it a potential differential diagnosis.
  • Carvajal syndrome: This rare autosomal dominant disorder is associated with striate focal epidermolytic PPK, woolly hair, and dilated cardiomyopathy. While the primary symptom of Carvajal syndrome is different from NEPPK, the presence of similar skin manifestations makes it a relevant differential diagnosis.
  • Skin fragility, woolly hair, and palmoplantar keratoderma associated with absence of tuftelin-1: This rare genetic disorder presents with skin fragility, woolly hair, and palmoplantar keratoderma. The similarity in symptoms to NEPPK makes it a potential differential diagnosis.
  • Pachyonychia congenita type I and type II: These syndromes are characterized by nail, skin, teeth, and eye anomalies. While the primary symptoms differ from NEPPK, the presence of similar skin manifestations makes them relevant differential diagnoses.

It's essential to note that a definitive diagnosis of NEPPK can only be made through clinical evaluation and genetic testing. A thorough examination of the patient's medical history, physical characteristics, and family history is necessary to rule out these potential differential diagnoses and confirm the diagnosis of focal nonepidermolytic palmoplantar keratoderma.

References: * Wachter-type focal nonepidermolytic palmoplantar keratoderma * Brünauer–Fuh–Siemens syndrome * Kubo A. Hereditary palmoplantar keratoderma-Clinical and genetic differential diagnosis

Additional Information

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