Bothnian type palmoplantar keratoderma

Bothnian Type Palmoplantar Keratoderma: A Rare Autosomal Dominant Form

Bothnian type palmoplantar keratoderma (PPKB) is a rare autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma. It is characterized by hyperkeratosis of the skin on the palms and soles, with a high prevalence in the northernmost provinces of Sweden.

Clinical Description

The condition typically presents in the first few months of life with brown-to-yellow keratoderma having an erythematous margin, and extension to dorsal aspects of hands/feet in some patients (transgrediens). Upon exposure to water, the keratoderma takes a white, spongy appearance.

Key Features

• Autosomal dominant inheritance pattern
• High prevalence in northernmost provinces of Sweden (0.3-0.55%)
• Hyperkeratosis on palms and soles
• Brown-to-yellow keratoderma with erythematous margin
• White, spongy appearance upon exposure to water

References

• Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia (PPKB), which has a high prevalence in the 2 northernmost provinces of Sweden [3][5][7][15].
• Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white hyperkeratosis on the palms and soles [5].

Signs and Symptoms of Bothnian Type Palmoplantar Keratoderma

Bothnian type palmoplantar keratoderma is a rare genetic disorder characterized by thickening of the skin on the palms and soles. The signs and symptoms of this condition can vary from person to person, but here are some common features:

• Diffuse hyperkeratosis: Thickening of the skin on the palms and soles, which can be mild to severe.
• Brown-to-yellowish palmoplantar hyperkeratosis: A characteristic feature of Bothnian type PPK, where the skin on the palms and soles appears brown or yellowish due to thickening.
• No changes in hair, teeth, or nails: Unlike some other forms of keratoderma, Bothnian type does not typically affect the hair, teeth, or nails.
• No syndromic involvement of other organs: This condition is usually isolated to the skin on the palms and soles.

It's essential to note that only a doctor can provide an accurate diagnosis of Bothnian type palmoplantar keratoderma based on individual symptoms. The severity of the signs and symptoms, as well as any associated complications, will determine the prognosis for individuals with this condition.

References:

• [1] (PPK type Bothnia) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia (PPKB), which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden.
• [13] Hereditary palmoplantar keratoderma (PPK) is characterized by hyperkeratosis of the skin of palms and soles, with Lind et al. describing an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia (PPKB).
• [14] This table lists symptoms that people with this disease may have, including diffuse hyperkeratosis and brown-to-yellowish palmoplantar hyperkeratosis.
• [15] Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles, with Lind et al. describing an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia.

Diagnostic Tests for Bothnian Type Palmoplantar Keratoderma

Bothnian-type palmoplantar keratoderma (PPK) is a rare genetic disorder characterized by excessive epidermal thickening on the palms and soles. Diagnosing this condition can be challenging, but several diagnostic tests can help confirm the diagnosis.

• Skin Biopsy: A skin biopsy is a crucial diagnostic test for Bothnian-type PPK [9]. The biopsy shows non-epidermolytic changes in the epidermis, which distinguishes it from other types of PPK.
• Genetic Testing: Genetic testing is essential to confirm the diagnosis and rule out other conditions. A broad panel testing that includes assessment of non-coding variants can be ideal for patients presenting with palmoplantar keratoderma [3].
• Clinical Evaluation: A thorough clinical evaluation by a dermatologist or geneticist is necessary to assess the patient's symptoms, medical history, and family history.
• Differential Diagnosis: The differential diagnosis for Bothnian-type PPK includes other types of PPK, such as epidermolytic palmoplantar keratoderma (EPPK) and non-epidermolytic palmoplantar keratoderma (NEPPK). Genetic testing can help differentiate between these conditions [7].

Additional Information

• A 26-gene panel that includes assessment of non-coding variants is ideal for patients presenting with palmoplantar keratoderma [3].
• Genetic testing has given insight into the biology of PPK and has allowed experts to reclassify them [8].
• Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication [6].

References

[1] Context 9 [2] Context 3 [3] Context 3 [4] Context 7 [5] Context 8

Treatment Options for Bothnian Type Palmoplantar Keratoderma

Bothnian-type palmoplantar keratoderma is a rare skin disorder 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 Medications

• Topical retinoids have been used to treat Bothnian-type palmoplantar keratoderma, with some studies showing minor improvement in symptoms [5].
• Keratolytic ointments containing urea, salicylic acid, and lactic acid can help soften the skin and reduce thickening [7][8].

Systemic Retinoids

• Etretinate has been successfully used in combination with goreisan to treat Bothnian-type palmoplantar keratoderma [2].
• Acitretin is another systemic retinoid that may be effective in treating this condition, although more research is needed [10].

Other Treatments

• Topical agents such as vitamin D analogues and retinoids can provide minor improvement in symptoms [9].
• Combination therapy with 40% urea cream has been used to treat Bothnian-type palmoplantar keratoderma, but results may vary [9].

It's essential to note that treatment for Bothnian-type palmoplantar keratoderma is often challenging, and response to systemic retinoids can be variable. A combination of topical and systemic treatments may be necessary to manage symptoms effectively.

References: [1] - Not applicable (no relevant information in search results) [2] Context #2 [3] - Not applicable (no relevant information in search results) [4] Context #4 [5] Context #5 [6] - Not applicable (no relevant information in search results) [7] Context #7 [8] Context #8 [9] Context #9 [10] Context #10

Differential Diagnosis of Bothnian Type Palmoplantar Keratoderma

Bothnian type palmoplantar keratoderma (PPK) is a rare autosomal dominant form of diffuse non-epidermolytic PPK. The differential diagnosis for this condition includes:

• Aquagenic palmoplantar keratoderma: This condition presents with similar symptoms to Bothnian type PPK, including thickening of the skin on the palms and soles.
• Diffuse nonepidermolytic PPK: This is another form of PPK that can present with similar symptoms to Bothnian type PPK.
• Hereditary palmoplantar keratoderma: This is a broader category of conditions that includes Bothnian type PPK, as well as other forms of PPK.

Key Features for Differential Diagnosis

To differentiate Betweennian type PPK from other forms of PPK, the following features can be considered:

• Spongy-white appearance on water exposure: Bothnian type PPK may present with a spongy-white appearance on affected areas when exposed to water.
• Hyperkeratosis beyond palms and soles: The presence of hyperkeratosis beyond the palms and soles, known as "transgrediens", can be used to distinguish between different subtypes of keratoderma.

References

• [3] Palmoplantar keratodermas (PPK) represent a diverse group of hereditary and acquired disorders characterized by hyperkeratosis of the skin of the palms and soles.
• [9] Another feature used to distinguish the various forms of PPK is the presence of hyperkeratosis beyond the palms and soles, known as "transgrediens".
• [13] Palmoplantar keratodermas (PPK) represent a diverse group of hereditary and acquired disorders characterized by hyperkeratosis of the skin of the palms and soles.