Keratosis palmoplantaris transgrediens et progrediens

Keratosis Palmoplantaris Transgrediens et Progrediens (KPTP), also known as Mal de Meleda, is a rare genetic disorder characterized by severe thickening of the skin on the palms of the hands and soles of the feet. This condition is a form of palmoplantar keratoderma (PPK), which refers to a group of disorders that cause abnormal thickening of the skin in these areas. KPTP is distinguished by its tendency to spread beyond the palms and soles, a feature implied by the terms "transgrediens" and "progrediens".

Symptoms and Characteristics

KPTP typically manifests in infancy or early childhood. The primary symptom is the progressive thickening of the skin on the palms and soles, which can extend to the tops of the hands and feet, and sometimes to the wrists and ankles. This thickened skin is often dry, scaly, and can crack, leading to pain and potential infections. In some cases, individuals with KPTP may also experience hyperhidrosis (excessive sweating), malodorous skin, and secondary skin infections due to the cracks and fissures in the thickened skin.

Causes

KPTP is caused by mutations in the SLURP1 gene, which is responsible for encoding a protein involved in the regulation of skin cell growth and differentiation. The 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 by the disorder.

Diagnosis

Diagnosis of KPTP is primarily based on the clinical presentation of the symptoms and the family history of the patient. Genetic testing can confirm the diagnosis by identifying mutations in the SLURP1 gene. In some cases, a skin biopsy may be performed to examine the characteristics of the affected skin under a microscope, which can help in differentiating KPTP from other forms of palmoplantar keratoderma.

Treatment

There is no cure for KPTP, and treatment focuses on managing symptoms and preventing complications. Emollients and keratolytic agents (substances that help to remove the thickened skin) are commonly used to reduce skin thickness and improve mobility. In severe cases, systemic treatments such as retinoids may be prescribed to control skin growth. Regular monitoring for skin infections is important, and antibiotics may be required to treat bacterial infections. In addition, wearing comfortable, well-fitting shoes and using protective gloves can help to minimize discomfort and prevent skin damage.

Prognosis

The prognosis for individuals with KPTP varies. While the condition does not typically affect overall life expectancy, it can significantly impact quality of life due to pain, mobility issues, and the psychological effects of visible skin abnormalities. Early and consistent treatment can help to manage symptoms and improve the quality of life for those affected by KPTP.