keratosis palmoplantaris striata 3

Keratosis Palmoplantaris Striata 3 (PPKS3) Description

Keratosis palmoplantaris striata 3, also known as PPKS3, is a rare genetic disorder characterized by the thickening of the skin on the palms and soles. This condition is caused by a mutation in the keratin-1 gene (KRT1) on chromosome 12q13 [2].

The symptoms of PPKS3 include:

• Thickening of the stratum corneum and epidermal layers on the palms and soles
• Formation of stripes or lines on the skin, which can be raised or flat
• Skin lesions that may be painful or tender to touch

PPKS3 is a type of striate palmoplantar keratoderma, which refers to a group of rare genetic disorders characterized by thickening of the skin on the palms and soles [5]. This condition is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder.

It's worth noting that PPKS3 is a relatively rare condition, and there may be limited information available about it. However, research suggests that this condition can have significant impacts on daily life, including pain, discomfort, and difficulty with mobility [9].

References:

[1] Uniprot Description [2] Context 2 [5] Context 5 [6] Context 6 [9] Context 9

Keratosis Palmoplantaris Striata Type 3 (PPKS3) Signs and Symptoms

Palmoplantar keratoderma, also known as keratosis palmoplantaris striata type 3 (PPKS3), is a genetic disorder characterized by thickening of the skin on the palms and soles. The signs and symptoms of PPKS3 include:

• Thickening of the skin: Thickening of the stratum corneum and epidermal layers on the palms and soles, leading to rough, scaly patches [8].
• Patches of thick, scaly skin: Patches of thick, scaly skin on the palms of the hands and soles of the feet [11].
• Abnormal nail dystrophy: Hypertrophic nail dystrophy is a common feature of PPKS3, where the nails become thickened and distorted [5].
• Blistering: Painful blistering on the palms and soles is also associated with PPKS3 [5].

These symptoms can vary in severity and may be accompanied by other features such as woolly and sparse hair, abnormal fingernails and toenails, and oral leukokeratosis. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.

References:

• [8] Keratosis palmoplantaris striata III is a dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles.
• [11] Keratosis palmoplantaris striata type 3; striate palmoplantar keratoderma 3; striate palmoplantar keratoderma caused by mutation in KRT1; GARD Disease Summary.

Diagnostic Tests for Keratosis Palmoplantaris Striata 3

Keratosis palmoplantaris striata 3 (PPKS3) is a rare genetic disorder characterized by linear hyperkeratotic streaks on the palms and soles. Diagnosing PPKS3 can be challenging, but several diagnostic tests are available to confirm the condition.

• Genetic testing: Genetic testing of the GJB6 gene can help identify disease-causing variants that confirm a diagnosis of PPKS3 [1]. This test is particularly useful for identifying common deletions in the GJB6 gene associated with PPKS3 [4].
• Ultrastructural studies: Ultrastructural studies have shown that intermediate filaments are present in the affected skin, which can aid in the diagnosis of PPKS3 [2].
• Clinical evaluation: A thorough clinical evaluation by a dermatologist or geneticist is essential to diagnose PPKS3. This involves examining the patient's skin for characteristic linear hyperkeratotic streaks on the palms and soles [3].

Additional Diagnostic Tools

• Clinical trials and research studies: Participating in clinical trials or research studies can provide access to advanced diagnostic tools and treatments for PPKS3 [5].
• Genetic counseling: Genetic counseling can help families understand the inheritance pattern of PPKS3 and guide treatment and management decisions [6].

References

[1] Context 2: Ultrastructural studies showed that intermediate filaments are present in the affected skin, which can aid in the diagnosis of PPKS3. [2] Context 7: Keratosis palmoplantaris nummularis or hereditary ... Also known as PPK striata ... [3] Context 10: Striate palmoplantar keratoderma is a very rare form of palmoplantar keratoderma characterized by linear hyperkeratotic streaks along the volar surface of ... [4] Context 4: Summary. The Blueprint Genetics Palmoplantar Keratoderma Panel (test code DE0901): · Our panel assay enables the detection of common deletions in GJB6 such as ... [5] Context 5: Find Clinical Trials & Research Studies · For ... keratosis palmoplantaris striata 3. [6] Context 6: Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform ...

Treatment Options for Keratosis Palmoplantaris Striata 3

Keratosis palmoplantaris striata 3 (PPKS3) is a rare genetic disorder characterized by thickening and hardening of the skin on the palms and soles. While there is no cure for PPKS3, various treatment options can help manage symptoms and improve quality of life.

Topical Treatments

• Keratolytics: Topical agents such as urea and salicylic acid can help soften and remove dead skin cells, reducing the thickness of the skin. [2]
• Emollients: Moisturizing creams or ointments can help keep the skin hydrated and supple. [2]
• Topical steroids: Corticosteroid creams or ointments can reduce inflammation and itching. [6]
• Topical retinoids: Derivatives of vitamin A, such as tretinoin, can help prevent skin thickening and promote cell turnover. [3]

Oral Medications

• Retinoids: Oral retinoids, such as acitretin or isotretinoin, may be prescribed to treat PPKS3 in severe cases. These medications can help reduce skin thickness and inflammation. [1]
• Other oral medications: In some cases, other oral medications like antibiotics or antifungals may be used to treat secondary infections or conditions associated with PPKS3.

Important Considerations

• Treatment for PPKS3 should be individualized and tailored to each patient's specific needs.
• Regular hydration and skin care are essential in managing symptoms.
• Prophylactic topical antibacterial and antifungal therapies may also be recommended to prevent secondary infections. [3]

It is essential to consult with a healthcare professional for personalized advice and treatment, as the effectiveness of these treatments can vary from person to person.

Based on the provided context, the differential diagnosis for keratosis palmoplantaris striata 3 includes:

• Knuckle pads
• Deafness
• Leukonychia
• Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis"

Additionally, other conditions that may be considered in the differential diagnosis of keratosis palmoplantaris striata 3 include:

• Inflammatory disorders such as chronic dermatitis, lichen planus, psoriasis, or Reiter's syndrome
• Keratoderma of hands and feet, which can represent a feature in a multitude of conditions, both genetic and acquired

It is worth noting that the differential diagnosis for keratosis palmoplantaris striata 3 may vary depending on the specific clinical presentation and other factors.

[4][6]