Keratosis palmoplantar-periodontopathy

Keratosis Palmoplantar-Periodontopathy (KPP), also known as Papillon-Lefèvre Syndrome (PLS), is a rare genetic disorder characterized by the combination of keratosis palmoplantar (thickening of the skin on the palms of the hands and soles of the feet) and periodontopathy (severe periodontal disease). This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Etiology

KPP is primarily caused by mutations in the CTSC gene (Cathepsin C gene), which plays a crucial role in immune system function and skin health. The CTSC gene mutations lead to a deficiency of the cathepsin C enzyme, which is essential for the activation of several serine proteases in immune defense and skin desquamation. The lack of this enzyme's activity is thought to contribute to the skin and periodontal symptoms observed in individuals with this syndrome.

Clinical Features

The hallmark features of KPP include:

• Keratosis Palmoplantar: The thickening of the skin on the palms and soles, which often begins in the first few years of life and can vary in severity.
• Periodontopathy: Severe periodontal disease leading to early loss of deciduous (baby) and permanent teeth. This typically begins in childhood and progresses rapidly without intervention.
• Additional features may include increased susceptibility to infections, hyperhidrosis (excessive sweating), and occasionally, arachnodactyly (abnormally long and slender fingers).

Diagnosis

Diagnosis of KPP is based on the clinical presentation and family history. Genetic testing can confirm the diagnosis by identifying mutations in the CTSC gene. Early diagnosis is crucial for managing the dental and dermatological aspects of the syndrome effectively.

Treatment

There is no cure for KPP, but the condition can be managed with a multidisciplinary approach that includes:

• Dermatological Care: Emollients and keratolytics to manage the skin symptoms.
• Dental Care: Rigorous oral hygiene, regular dental check-ups, and periodontal treatment to manage gum disease and preserve teeth.
• Antibiotic Therapy: To manage infections and reduce the severity of periodontal disease.

Prognosis

With early and aggressive treatment, individuals with KPP can lead relatively normal lives. However, the severity of the dental disease often results in early tooth loss, which can affect nutrition, speech, and self-esteem.

Epidemiology

KPP is extremely rare, with an estimated prevalence of 1-4 cases per million individuals worldwide. It affects males and females equally and has been reported in various ethnic groups.

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