Keratosis focal palmoplantar gingival

Keratosis Focal Palmoplantar and Gingival (KFPG) is a rare genetic disorder characterized by the presence of keratosis on the palms and soles (palmoplantar keratoderma) and in the oral cavity, particularly affecting the gingiva. This condition is part of a group of diseases known as palmoplantar keratodermas (PPK), which are disorders affecting the skin of the palms and soles.

Symptoms and Characteristics

KFPG is distinguished by the development of thick, hard patches of skin on the palms of the hands and the soles of the feet, a condition known as palmoplantar keratoderma. In addition to skin symptoms, individuals with KFPG often have distinctive dental anomalies, primarily hyperkeratosis of the gingiva, which can lead to significant dental issues, including tooth loss and gum disease.

Genetics

The condition is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is necessary for the disorder to manifest. The specific gene associated with KFPG has been identified as KRT6C, which encodes a type of keratin, a structural protein crucial for the integrity and function of skin and mucous membranes.

Diagnosis

Diagnosis of KFPG is primarily clinical, based on the characteristic symptoms and family history. Genetic testing can confirm the diagnosis by identifying mutations in the KRT6C gene. Dermatological examination and biopsy of affected skin and gingival tissues can also aid in diagnosis, revealing the typical histopathological features of hyperkeratosis.

Treatment

There is no cure for KFPG, and treatment focuses on managing symptoms and preventing complications. Topical treatments, such as keratolytics and emollients, can help soften the keratotic skin and improve discomfort. Dental care is crucial for managing gingival keratosis and preventing tooth loss. In severe cases, surgical interventions, such as skin grafts or gingivectomy, may be necessary.

Prognosis

The prognosis for individuals with KFPG varies. While the condition can significantly affect the quality of life due to pain and mobility issues related to palmoplantar keratoderma, as well as dental problems, it is not life-threatening. With appropriate management, most individuals can lead active lives.