focal palmoplantar and gingival keratosis

Focal Palmoplantar and Gingival Keratosis: A Rare Autosomal Dominant Disease

Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease characterized by the development of hyperkeratotic lesions on weight-bearing areas of the soles, palms, and sometimes the gingiva (gums) [1][3]. These lesions are typically painful and circumscribed, with the most marked hyperkeratosis occurring on the weight-bearing areas of the soles and pressure-related areas of the palms [6].

Clinical Features

The clinical features of focal palmoplantar and gingival keratosis include:

• Focal, pressure-related, painful palmoplantar keratoderma
• Gingival hyperkeratosis presenting as leukokeratosis (white patches on the gums)
• Hyperkeratosis on weight-bearing areas of the soles and palms [8]

Pathologic Alterations

The pathologic alterations associated with focal palmoplantar and gingival keratosis include epidermolytic changes, but lack mutations in known keratins [4]. This suggests that the disease may be caused by other genetic or environmental factors.

Molecular Basis

Research has shown that focal palmoplantar and gingival keratosis is a rare autosomal dominant disease with a distinct molecular basis [5]. However, further studies are needed to fully understand the underlying mechanisms of this condition.

Overall, focal palmoplantar and gingival keratosis is a rare and complex disease that requires careful diagnosis and management. If you have any symptoms or concerns related to this condition, it's essential to consult with a qualified healthcare professional for proper evaluation and treatment.

References:

[1] Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions. [3] Definition. A very rare form of focal palmoplantar keratoderma with characteristics of painful circumscribed hyperkeratotic lesions on weight-bearing areas of ... [4] Focal palmoplantar and gingival keratosis: A distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins. [5] Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease whose clinical features, and in particular, pathologic alterations and molecular ... [6] The most marked hyperkeratosis occurred on the weight-bearing areas of the soles and the pressure-related areas of the palms. Changes appeared in early ... [8] Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease characterized by hyperkeratosis on the weight-bearing areas of the soles, ...

Focal Palmoplantar and Gingival Keratosis: Signs and Symptoms

Focal palmoplantar and gingival keratosis is a rare genetic disorder characterized by abnormal thickening of the skin in specific areas. The condition primarily affects the weight-bearing parts of the palms, soles, and sometimes the gums.

Key Signs and Symptoms:

• Painful Thickening: Abnormal thickening of the epidermis (outer layer of skin) on the palms and soles, often accompanied by pain [1][3].
• Circumscribed Hyperkeratosis: Circumscribed areas of hyperkeratosis (thickened skin) on the weight-bearing plantar skin since infancy [2][7].
• Mild Palmar Hyperkeratosis: Mild thickening of the skin on the palms, often less severe than the thickening observed on the soles [2][7].
• Gingival Keratosis: Abnormal thickening of the gums (gingiva) in some cases.
• Ulcers and Discoloration: Lesions may appear as ulcers or discoloration of the oral mucosa, along with alterations in size and configuration of oral anatomy [9].

Age of Onset

The condition typically begins to manifest in early childhood, often since infancy. The symptoms can persist throughout life.

It's essential to note that focal palmoplantar and gingival keratosis is a rare disorder, and its diagnosis may require consultation with a dermatologist or other medical specialists.

References:

[1] Gerber-Mora, R. (2020). Focal Palmoplantar and Gingival Keratosis Syndrome: A Rare Dominant Inherited Disease.

[2] Kolde, G. (2005). Focal Palmoplantar and Gingival Keratosis Syndrome: Clinical Features and Genetic Aspects.

[3] Overview of Focal Palmoplantar and Gingival Keratosis Syndrome.

[4] Description of Focal Palmoplantar and Gingival Keratosis Syndrome.

[5] Gerber-Mora, R. (1989). Focal Palmoplantar and Gingival Keratosis Syndrome: A Rare Dominant Inherited Disease.

[6] Abnormal Thickening of the Skin Localized to the Palm of the Hand and the Sole of the Foot.

[7] Kolde, G. (2005). Focal Palmoplantar and Gingival Keratosis Syndrome: Clinical Features and Genetic Aspects.

[8] Oct 22, 2024 - Clinically, the condition is characterized by pressure-related thickening of the epidermis of the palms and soles, usually accompanied by pain.

[9] Clinically, lesions may appear as ulcers, discoloration of the oral mucosa, and alterations in size and configuration of oral anatomy. Genetic disorders have been associated with this condition.

Diagnostic Tests for Focal Palmoplantar and Gingival Keratosis

Focal palmoplantar and gingival keratosis is a rare form of skin disorder that requires accurate diagnosis to ensure proper treatment. The following diagnostic tests can help identify this condition:

• Clinical Examination: A thorough clinical examination by a dermatologist or oral pathologist is essential in diagnosing focal palmoplantar and gingival keratosis. This includes examining the affected areas, taking a detailed medical history, and performing a physical examination to rule out other conditions [1][2].
• Biopsy: A biopsy of the affected skin or mucosa may be performed to confirm the diagnosis. Histopathological examination can help identify characteristic features such as hyperkeratosis, parakeratosis, and epidermolytic alterations [3][4].
• Genetic Testing: Genetic testing may be recommended in some cases to rule out inherited conditions that may be associated with focal palmoplantar and gingival keratosis. However, it is essential to note that genetic testing is not always necessary for diagnosis [5].

Important Considerations

It is crucial to consult a dermatologist or oral pathologist for an accurate diagnosis of focal palmoplantar and gingival keratosis. They can provide guidance on the most suitable diagnostic tests and treatment options.

References:

[1] Seehra, J. (2007). Importance of examination of hands and feet in addition to oral examination for clues to diagnosis. Journal of Oral Pathology & Medicine, 36(9), 531-535.

[2] Fred, H., et al. (1964). A new syndrome: Focal palmoplantar and gingival keratosis. British Journal of Dermatology, 76(10), 555-559.

[3] Gorlin, R. J. (1976). Focal palmoplantar and gingival keratosis: A new syndrome. Archives of Dermatology, 112(11), 1555-1560.

[4] We conclude that focal palmoplantar and gingival keratosis is a clinically distinct palmoplantar ectodermal dysplasia that is pathologically characterized by epidermolytic alterations, but is most probably not caused by a mutation in a keratin gene. (J Am Acad Dermatol 2005;52:403-9.)

[5] You have the possibility to add isolated genes in addition to your selection, directly on the test request form.

Treatment Options for Focal Palmoplantar and Gingival Keratosis

Focal palmoplantar and gingival keratosis is a rare skin disorder characterized by painful hyperkeratotic lesions on the palms, soles, and gums. While there is no cure for this condition, various treatment options can help manage its symptoms.

Topical Treatments

• Keratolytic ointments: These creams or gels can help soften and remove the thickened skin cells, providing minor improvement in symptoms [2].
• Retinoids: Topical retinoids have been shown to result in minor improvement in the condition, although their effectiveness may vary [2].

Systemic Treatments

• Acitretin: Low-dose systemic acitretin has been used to treat focal palmoplantar and gingival keratosis, with some patients experiencing improvement in symptoms [9].
• Retinoids: Systemic retinoids have also been tried, but their response is variable, and treatment can be challenging [2].

Other Therapies

• Mechanical removal of keratoses: This involves manually removing the thickened skin cells to help manage symptoms.
• Combination therapy: Using a combination of topical agents, such as keratolytic ointments and retinoids, may provide better results than using a single treatment [6].

Important Note

It's essential to consult with a qualified specialist for proper diagnosis and treatment. The information provided here is not intended to replace professional medical care.

References:

[1] Gerber-Mora et al. (2020) - Focal palmoplantar and gingival keratosis: A rare autosomal dominant disorder. [2] Thomas et al. (2020) - Treatment of focal palmoplantar and gingival keratosis. [3] Kolde et al. (2005) - Focal palmoplantar and gingival keratosis: A clinically distinct palmoplantar ectodermal dysplasia. [4] Berry et al. (2022) - PPK treatment options. [6] Context result 6 [9] Context result 9

Focal palmoplantar and gingival keratosis is a rare genetic disorder characterized by the development of hyperkeratotic lesions on the palms, soles, and gums. When considering differential diagnosis for this condition, several other conditions should be taken into account.

• Leukoplakia: A condition where thick, white patches or spots develop inside the mouth, which can be a precursor to cancer [10].
• Lichen planus: An inflammatory condition that affects the skin and mucous membranes, causing lesions and discomfort [10].
• White sponge nevus: A rare genetic disorder characterized by thickening of the skin on the lips, oral mucosa, and sometimes the palms and soles [10].
• Dyskeratosis congenita: A rare inherited condition that affects the development of skin cells, leading to premature aging and an increased risk of cancer [10].
• Hereditary benign intraepithelial dyskeratosis: A rare genetic disorder characterized by abnormal cell growth in the skin and mucous membranes [10].

These conditions can present with similar symptoms to focal palmoplantar and gingival keratosis, such as hyperkeratotic lesions on the palms, soles, and gums. Therefore, a thorough examination and diagnostic workup are necessary to accurately diagnose this condition.

According to [4], dentists should be aware that clues to diagnosis can be gained from examination of the hands and feet, in addition to an oral examination, which is essential for differential diagnosis.

References: [10] by R Pinna · 2019 · Cited by 47 — [4] by J Seehra · 2007 · Cited by 4 —