Focal palmoplantar and gingival keratosis
Focal Palmoplantar and Gingival Keratosis
Focal Palmoplantar and Gingival Keratosis is a rare genetic disorder characterized by the development of thickened skin on the palms of the hands, soles of the feet, and the gingiva (gums). This condition is part of a group of disorders known as keratodermas, which involve abnormal keratinization of the skin.
Clinical Features[edit | edit source]
Individuals with focal palmoplantar and gingival keratosis typically present with:
- Palmoplantar Keratosis: Thickening of the skin on the palms and soles, which may lead to painful fissures and difficulty in walking or using the hands.
- Gingival Keratosis: Thickening of the gingival tissue, which can cause discomfort and may affect oral hygiene.
The severity of symptoms can vary among affected individuals, and the onset of symptoms usually occurs in childhood or early adulthood.
Genetics[edit | edit source]
Focal palmoplantar and gingival keratosis is often inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. Mutations in specific genes responsible for keratin production and regulation are typically involved.
Diagnosis[edit | edit source]
Diagnosis of this condition is primarily clinical, based on the characteristic appearance of the skin and gums. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.
Management[edit | edit source]
Management of focal palmoplantar and gingival keratosis focuses on alleviating symptoms and improving quality of life. Treatment options may include:
- Keratolytic Agents: Topical treatments that help to soften and remove the thickened skin.
- Emollients: Moisturizers to keep the skin hydrated and reduce cracking.
- Oral Retinoids: Medications that can help to reduce keratin production and improve skin texture.
Regular dental care is important to manage gingival symptoms and prevent complications.
Related Conditions[edit | edit source]
Focal palmoplantar and gingival keratosis is related to other forms of keratoderma, such as:
See Also[edit | edit source]
Related Pages[edit | edit source]
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Contributors: Prab R. Tumpati, MD
