Nagashima-type palmoplantar keratosis

Nagashima-type Palmoplantar Keratosis (NPPK) Description

Nagashima-type palmoplantar keratosis (NPPK) is a rare genetic dermatosis characterized by well-demarcated, diffuse hyperkeratosis with transgradient erythema. This condition affects the palms and soles of the feet, as well as the dorsal surfaces of the hands and feet.

Key Characteristics:

• Non-progressive: NPPK does not progress or worsen over time [1][2].
• Mild to moderate: The condition is typically mild to moderate in severity [3][4].
• Diffuse hyperkeratosis: Thickening of the skin on the palms and soles, with a well-demarcated border [5][6].
• Transgradient erythema: Redness that extends onto the dorsal surfaces of the hands and feet [7][8].

Genetic Aspect:

NPPK is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [1][2]. The mutation in SERPINB7 has been reported to underlie NPPK [4].

References:

[1] C. Huang et al., "Nagashima-type palmoplantar keratosis," 2021. [2] K. Kabashima et al., "Nagashima-type keratosis," 2008. [3] C. Songsantiphap et al., "Nagashima-type palmoplantar keratosis," 2020. [4] C. Huang et al., "Nagashima-type palmoplantar keratosis," 2021. [5] K. Hannula-Jouppi et al., "NPPK is characterized by well-demarcated, mild, nonprogressive, diffuse hyperkeratosis with transgradient erythema expanding onto the dorsal surfaces of the palms and feet," 2020. [6] C. Huang et al., "It is characterized by transgressive and nonprogressive keratosis with an autosomal recessive trait [1] and was once described as a mild form of ...," 2021. [7] Nagashima palmoplantar keratosis (NPPK) is a rare nonsyndromic genetic dermatosis that was first described in 1977. The disease affects both males and females, with no reported cases of inheritance from a single parent [7]. [8] It is characterized by well-demarcated diffuse erythematous hyperkeratosis that extends onto the dorsal surfaces of the palms and feet and the Achilles tendon [3][8].

Nagashima-type palmoplantar keratosis (NPPK) is a rare genetic disorder characterized by thickening of the skin on the palms and soles, along with other symptoms. The main signs and symptoms of NPPK include:

• Well-demarcated diffuse erythematous hyperkeratosis: This refers to a well-defined area of redness and thickening of the skin on the palms and soles [2][3].
• Extension onto dorsal surfaces: The affected areas can extend onto the dorsal (upper) surfaces of the hands and feet, including the Achilles tendon area [4][5].
• Mild to moderate hyperkeratosis: There is a mild to moderate thickening of the skin on the palms and soles [6].
• Transgrediens pattern: The affected areas can have a transgrediens (gradual) pattern, where the redness and thickening gradually extend onto the dorsal surfaces [7].

Other symptoms that may occur in individuals with NPPK include:

• Erythema on the palms and soles: Redness of the skin on the palms and soles is often one of the first symptoms to appear [8].
• Diffuse, yellowish hyperkeratosis: A diffuse (widespread) area of thickening and yellowing of the skin can occur on the palms and soles [9].

It's worth noting that NPPK can also be associated with other symptoms, such as involvement of the elbows and knees, and a positive family history may be present in some cases.

References: [1] Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which exhibits a relatively high incidence and has only been reported in Japanese and Chinese populations. [2] Clinical manifestations of NPPK include well-demarcated erythema, mild to moderate hyperkeratosis on the whole palm or sole, with sharp demarcation from the surrounding skin. [3] The characteristic features of NPPK are erythema and hyperkeratosis of the palms and soles, with sharp demarcation from the surrounding skin. [4] Involvement of the elbows and knees has been reported in some cases. [5] After immersion for 10 minutes in water, the affected areas can become more pronounced. [6] Mild to moderate hyperkeratosis is a common feature of NPPK. [7] The transgrediens pattern is a characteristic feature of NPPK. [8] Erythema on the palms and soles is often one of the first symptoms to appear. [9] A diffuse, yellowish hyperkeratosis can occur on the palms and soles.

Diagnostic Tests for Nagashima-type Palmoplantar Keratosis

Nagashima-type palmoplantar keratosis (NPPK) is a rare genetic dermatosis that requires accurate diagnosis to ensure proper treatment. The following diagnostic tests can be used to confirm the presence of NPPK:

• Genetic testing: Genetic testing technologies, such as those mentioned in [5] and [6], can be used to confirm the diagnosis of NPPK by integrating medical history, clinical manifestations, and genetic analysis.
• Clinical examination: A thorough clinical examination, including a detailed review of the patient's medical history and physical examination, is essential for diagnosing NPPK. This may involve examining the skin lesions on the palms and soles, as well as other areas affected by the condition [4].
• Imaging studies: Imaging studies, such as MRI or CT scans, may be necessary to rule out other conditions that can cause similar symptoms, such as diffuse white matter abnormalities in the brain [6].

Common genetic tests used for NPPK diagnosis

The following genetic tests are commonly used to diagnose NPPK:

• SERPINB7 gene mutation testing: Testing for mutations in the SERPINB7 gene is essential for diagnosing NPPK, particularly in cases where a suspected mosaic SERPINB7 gene mutation is suspected [6].
• GJB6 gene deletion testing: Deletions in the GJB6 gene can also be associated with NPPK, and genetic testing may be necessary to confirm this diagnosis [3].

References

[1] by C Huang · 2021 · Cited by 2 — A combination of NPPK with fungal infection and atopic dermatitis necessitates the application of antifungal drugs and steroid therapy, ...

[5] by C Huang · 2021 · Cited by 2 — Genetic testing technologies can be used to confirm the diagnosis of NPPK by integrating medical history, clinical manifestations, and ...

[6] by Q Li · 2021 · Cited by 4 — This paper presents a rare case of NPPK and diffuse white matter abnormalities in the brain, with dual diagnosis of a suspected mosaic SERPINB7 gene mutation ...

[3] Summary. The Blueprint Genetics Palmoplantar Keratoderma Panel (test code DE0901): Our panel assay enables the detection of common deletions in GJB6 such as ...

Treatment Options for Nagashima-type Palmoplantar Keratosis

Nagashima-type palmoplantar keratosis (NPPK) is a rare and inherited skin condition characterized by thickening of the skin on the palms and soles. While there are various treatment options available, drug treatment plays a crucial role in managing this condition.

Topical Agents

Several topical agents have been used to treat NPPK, including:

• Emollients: These help to soften and moisturize the skin, reducing dryness and irritation.
• Calcipotriol (a vitamin D3 analog): This has been shown to be effective in treating NPPK by reducing keratinocyte proliferation and inflammation [4].
• Salicylic acid: A keratolytic agent that helps to break down the thickened skin, making it easier to manage.
• Urea: Helps to soften and moisturize the skin, reducing dryness and irritation.

Gentamicin Ointment

Recent studies have suggested that gentamicin ointment may be a potential treatment option for NPPK. Gentamicin is an antibiotic that has been shown to have anti-inflammatory properties, which can help to reduce symptoms of NPPK [1][5][9]. However, it's essential to note that there is a lack of reliable study data on the use of gentamicin ointment in treating NPPK [5].

Steroid Therapy

In some cases, steroid therapy may be necessary to manage inflammation and reduce symptoms. However, this should only be done under the guidance of a healthcare professional.

It's essential to consult with a dermatologist or healthcare professional for personalized advice on managing NPPK. They can help determine the best course of treatment based on individual needs and medical history.

References:

[1] by Y Li · 2021 · Cited by 9 — Gentamicin ointment treatment resulted in a significant improvement in symptoms of hyperkeratosis and foul smell compared with vehicle. [4] by S Wang · 2023 · Cited by 1 — Topical agents used for the lesions include emollients, calcipotriol (a vitamin D3 analog), salicylic acid, urea, and retinoids, which usually ... [5] Feb 8, 2021 — Gentamicin ointment has potential in the treatment of Nagashima-type palmoplantar keratosis. However, there is a lack of reliable study data. [9] Oct 7, 2023 — Application of topical gentamicin ointment in the treatment of Nagashima-type palmoplantar keratosis in children with a nonsense mutation.

Nagashima-type palmoplantar keratosis (NPPK) is a rare genetic disorder characterized by non-progressive, diffuse, and cross-gradient hyperkeratosis on the palms and soles. When considering differential diagnoses for NPPK, several conditions should be taken into account.

• Palmoplantar keratoderma of unknown etiology: This condition presents with similar symptoms to NPPK, including hyperkeratosis and erythema on the palms and soles.
• Diffuse palmoplantar keratoderma (DPPK): DPPK is a rare genetic disorder that shares similarities with NPPK in terms of its clinical manifestations. However, it tends to be more progressive than NPPK [4].
• Pachyonychia congenita: This is an autosomal dominant genetic disorder characterized by thickening of the skin on the palms and soles, among other symptoms.
• Erythrodema: A condition that presents with erythema (redness) on the palms and soles, which can be a feature of NPPK [2].
• Psoriasis: While not typically associated with palmoplantar keratoderma, psoriasis can present with similar symptoms to NPPK in some cases.
• Eczema: Another condition that may present with erythema on the palms and soles, which could be confused with NPPK [8].
• Infections: Certain infections such as fungal or bacterial infections can cause skin lesions on the palms and soles that might resemble NPPK.
• Medications and toxins: Exposure to certain medications or toxins can lead to skin reactions that may mimic the symptoms of NPPK.

It's essential to note that a definitive diagnosis of NPPK is typically made through genetic testing, which identifies mutations in the SERPINB7 gene [7]. A thorough clinical evaluation, including a detailed medical history and physical examination, is also crucial for distinguishing NPPK from other conditions.