keratosis palmoplantaris striata 1

Keratosis Palmoplantaris Striata Description

Keratosis palmoplantaris striata, also known as striate palmoplantar keratoderma, is a skin condition characterized by the thickening of skin on the palms and soles. This condition belongs to a group of diseases called palmoplantar keratodermas.

Key Features:

• Thickening of skin on the palms and soles
• Hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the fingers and toes
• Lesions can extend from the fingertips to the palm, and from the heel to the sole

Clinical Presentation: The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are also present on the soles. This condition can be inherited or acquired.

References:

• [1] - Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles.
• [5] - A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the fingers and toes.
• [6] - The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are also present on the soles.

Keratosis Palmoplantaris Striata I (PPKS1) Signs and Symptoms

Keratosis palmoplantaris striata I, also known as PPKS1, is a rare genetic disorder that affects the skin on the palms of the hands and soles of the feet. The condition is characterized by thickening of the skin in these areas, resulting in hyperkeratotic lesions.

Key Signs and Symptoms:

• Hyperkeratotic lesions: Thickened skin patches on the palms and soles, which can be yellowish or brownish in color [1].
• Restricted to pressure regions: Lesions are typically found in areas subjected to pressure, such as the fingertips and heel of the foot [14].
• Longitudinal extension: Lesions may extend longitudinally along the length of each finger to the palm [14].

Other Associated Features:

• Heterozygous mutation: PPKS1 is caused by a heterozygous mutation in the DSG1 gene on chromosome 18q12 [2].
• Variable features: Some individuals may experience additional symptoms, such as chronic periodontal disease, bilateral cataracts, and optic nerve colobomata [4].

References:

[1] Context result 6 [2] Context result 2 [14] Context result 14

Diagnostic Tests for Keratosis Palmoplantaris Striata Type 1

Keratosis palmoplantaris striata type 1, also known as striate palmoplantar keratoderma, is a rare genetic disorder that affects the skin on the palms and soles. The diagnosis of this condition typically involves a combination of physical examination, family history, and genetic testing.

• Physical Examination: A thorough physical examination by a dermatologist or consultant specialist can help identify the characteristic features of keratosis palmoplantaris striata type 1, such as thickening of the skin on the palms and soles [3].
• Family History: A detailed family history is essential to determine if the condition is inherited or not. If there is a family history of similar symptoms, it can support the diagnosis [5].
• Genetic Testing: Genetic testing involves analyzing DNA samples from affected individuals to identify mutations in specific genes, such as DSG1, DSP, and KRT1 [4]. This test can confirm the diagnosis and provide information about the genetic basis of the condition.

In addition to these diagnostic tests, a comprehensive evaluation by a consultant dermatologist or specialist may also involve:

• Targeted Mutation Analysis: This involves analyzing specific genes associated with keratosis palmoplantaris striata type 1 for mutations [4].
• Mutation Scanning/Screening: This test is used to identify mutations in the DSG1, DSP, and KRT1 genes [4].

It's essential to consult a specialist or dermatologist for an accurate diagnosis and treatment plan.

Treatment Options for Keratosis Palmoplantaris Striata 1

Keratosis palmoplantaris striata 1 (KPStr1) is a rare genetic disorder characterized by thickening of the skin on the palms and soles. While there are no definitive cures, various treatment options can help manage symptoms and improve quality of life.

Topical Treatments

• Keratolytic agents: Topical creams or ointments containing salicylic acid, urea, or propylene glycol can help soften and remove thickened skin. [2][10]
• Topical retinoids: Derivatives of vitamin A, such as tretinoin, can help reduce keratin buildup and improve skin texture. [2][10]

Oral Medications

• Retinoids: Oral retinoids, like etretinate, have been used to treat KPStr1 in some cases, leading to partial improvement of symptoms. However, their use is often limited due to potential side effects. [9]

Other Therapies

• Emollients: Moisturizing creams or ointments can help keep the skin hydrated and reduce dryness.
• Topical steroids: Corticosteroid creams or ointments may be used to reduce inflammation and itching.

It's essential to note that treatment for KPStr1 is often individualized, and a combination of therapies may be necessary to manage symptoms effectively. Patients should consult with a healthcare professional for personalized advice and treatment planning. [8]

References:

[2] - Emollients [8] - Patient-Focused Drug Development [9] - by H Keren · 2005 · Cited by 37 — Treatment with etretinate for several months led to partial improvement of his condition but was discontinued at the patient's request because of excessive skin ... [10] - Treatment. Conservative management of PPKs include topical keratolytics (such as urea and salicylic acid), emollients, topical steroids and retinoids, and ...

Based on the provided context, the differential diagnosis for Keratosis Palmoplantaris Striata Type I (SPPK-I) includes:

• Psoriasis
• Seborrheic dermatitis
• Dermatophytosis
• Keratosis pilaris

These conditions can be ruled out through clinical examination and laboratory tests. For instance, psoriasis is characterized by well-demarcated erythematous plaques with silvery scales, whereas SPPK-I presents with punctate hyperkeratoses on the palms and soles.

Additionally, the differential diagnosis also includes other hereditary palmoplantar keratoderma conditions, such as:

• Keratosis Palmoplantaris Striata Type I (SPPK-I) caused by mutations in desmoglein-1 (DSG-1)
• Pachyonychia Congenita (PC), a heterogeneous group of conditions characterized by nail dystrophy and painful focal keratoderma.

It's worth noting that the diagnosis of SPPK-I is often challenging, and a combination of clinical features, family history, and genetic testing may be necessary to confirm the diagnosis [10].

References: * Sakiyama T, Kubo A. Hereditary palmoplantar keratoderma