focal nonepidermolytic palmoplantar keratoderma

Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a rare hereditary skin disorder characterized by the formation of large, hard, compact, and painful masses of keratin on the feet and palms. This condition primarily affects pressure areas and sites of recurrent friction.

Key Features:

• Autosomal Dominant Inheritance: FNEPPK is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.
• Localized Hyperkeratosis: The disorder is characterized by localized areas of hyperkeratosis, which are thickened patches of skin on the palms and soles.
• Painful Masses: FNEPPK manifests as large, hard, compact, and painful masses of keratin on the feet and palms.

Clinical Implications:

• Pressure Points: The condition primarily affects pressure points and sites of recurrent friction, such as the heel, ball of the foot, and palm.
• Pain and Discomfort: Patients with FNEPPK often experience pain and discomfort due to the formation of these painful masses.

References:

• [1] Focal keratodermas mainly affect pressure areas. Punctate-type keratoderma results in tiny bumps on the palms and soles.
• [4] Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin on the feet, palms...
• [5] Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin on the feet, palms...
• [6] Palmoplantar keratoderma, nonepidermolytic, focal 1 is an autosomal dominant skin disorder characterized by hard, painful masses of keratin on the feet, palms...

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

• Large, hard, compact, painful masses of keratin: These masses develop at sites of recurrent friction, primarily on the feet, but also on the palms and other areas.
• Painful blisters: Painful blisters may develop in some cases.
• Hyperhidrosis: Excessive sweating may occur.
• Oral leukokeratosis: White patches or lesions may appear on the mucous membranes of the mouth.
• Angular cheilitis: Inflammation and cracking of the corners of the mouth may occur.

These symptoms can vary in severity and may be accompanied by other signs and symptoms, depending on the individual case. It's worth noting that FNEPPK is an autosomal dominant skin disorder, which means it can be inherited from a parent who has the condition.

According to [10], the clinical features of FNEPPK usually present within the first two years of life. The mode of inheritance for this condition is autosomal dominant, and it is traced to mutations in the KRT1 and KRT16 keratins genes.

In terms of classification, FNEPPK is a type of palmoplantar keratoderma that tends to be focal. The classification depends on which keratin gene is mutated [14].

Focal non-epidermolytic palmoplantar keratoderma (FNEPPK) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. Diagnostic tests for FNEPPK are crucial in confirming the diagnosis, especially since it can be challenging to distinguish from other similar conditions.

Clinical Tests

Several clinical tests are available to diagnose FNEPPK (see context 4). 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].
• Clinical evaluation: A thorough clinical examination is essential to assess the extent and severity of skin thickening on the palms and soles.

Molecular Genetics Tests

In addition to clinical tests, molecular genetics tests can also be employed to diagnose FNEPPK. These include:

• Deletion/duplication analysis (4 available): This test can help identify genetic mutations associated with FNEPPK.
• A 26-gene panel that includes assessment of non-coding variants: This test is ideal for patients presenting with palmoplantar keratoderma, including FNEPPK [5].

Other Diagnostic Tests

Other diagnostic tests may also be considered in the diagnosis of FNEPP

Based on the provided context, it appears that focal nonepidermolytic palmoplantar keratoderma (PPK) is a type of PPK that affects the skin on the palms and soles. The recommended treatment for this condition includes:

• Topical keratolytics such as urea, salicylic acid, and lactic acid in emollient [8][9]
• Emollients to help soften and moisturize the skin
• Topical steroids to reduce inflammation
• Retinoids to promote cell turnover and prevent excessive keratinization

It's also worth noting that in some cases, oral retinoids may be prescribed for more severe forms of PPK [5]. However, it's essential to consult a dermatologist or healthcare professional for personalized advice on treatment options.

In one specific case study mentioned in the context, a 20-year-old woman with a severe form of Mal de Meleda keratoderma (a nonepidermolytic hPPK) was treated with alitretinoin 30 mg daily for 3 months, which resulted in significant improvement without major side effects [10].

It's essential to consult a dermatologist or healthcare professional for personalized advice on treatment options and to discuss the potential risks and benefits of any medication.

Focal nonepidermolytic palmoplantar keratoderma (NEPPK) is a rare skin disorder that can be challenging to diagnose due to its similarity with other conditions. Here are some differential diagnoses for NEPPK:

• Pachyonychia congenita: This genetic disorder is characterized by thickening of the nails, painful palmoplantar keratoderma, and blistering. It often presents with similar symptoms as NEPPK.
• Vörner-type focal nonepidermolytic palmoplantar keratoderma: This autosomal dominant disorder is a variant of NEPPK that affects the skin on the palms and soles. It can be distinguished from NEPPK by its specific clinical features, such as hyperkeratoses in the creases of the hands and feet.
• Brünauer–Fuh–Siemens syndrome: Also known as Wachter-type focal nonepidermolytic palmoplantar keratoderma, this autosomal dominant disorder is characterized by thickening of the skin on the palms and soles. It can be distinguished from NEPPK by its specific clinical features, such as hyperkeratoses in the creases of the hands and feet.
• Palmoplantar keratoderma type Gamborg-Nielsen: This autosomal dominant disorder is characterized by thickening of the skin on the palms and soles. It can be distinguished from NEPPK by its specific clinical features, such as hyperkeratoses in the creases of the hands and feet.
• Pachyonychia congenita type I and II: These genetic disorders are characterized by thickening of the nails, painful palmoplantar keratoderma, and blistering. They often present with similar symptoms as NEPPK.

It's essential to note that a definitive diagnosis of NEPPK can only be made through a combination of clinical evaluation, family history, and genetic testing. A dermatologist or a geneticist should be consulted for an accurate diagnosis and treatment plan.

References:

• Kubo A. Hereditary palmoplantar keratoderma-Clinical and genetic differential diagnosis.
• SAKIYAMA T, KUBO A. Hereditary palmoplantar keratoderma “clinical and genetic differential diagnosis”.