Papillon Lefevre Syndrome

Papillon-Lefèvre syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles.

Other names of Papillon Lefevre Syndrome

  • keratoris palmoplantaris with periodontopathia

  • PLS

Causes of Papillon Lefevre Syndrome

  • Papillon-Lefèvre syndrome is caused by changes (alterations) in CTSC (Cathepsin C) gene.

  • Genes provide instructions for creating proteins that play a critical role in many functions of the body.

  • When a gene is altered, the protein product may be faulty, inefficient, or absent.

  • Depending upon the functions of the particular protein, this can affect many organ systems of the body.

  • The CTSC gene encodes for the production of a specific type of enzyme (lysosomal protease) known as cathepsin C.

  • The protein is expressed at high levels in various immune cells and certain bodily areas affected by PLS.

  • These include the tightly packed cells, known as epithelial cells, that form the protective outer layer of the skin (epidermis), such as of the palms, soles, and knees, as well as certain cells of the gums (gingiva).

  • Several different alterations of the CTSC gene have been detected in affected kindreds.

  • Certain alterations may result in almost complete loss of cathepsin C enzymatic activity in individuals with the disease-or relatively reduced activity of the enzyme in some family members who carry a single altered copy of the gene (heterozygous carriers).

Symptoms of Papillon Lefevre Syndrome

  • Papillon-Lefèvre syndrome is characterized by the development of dry scaly patches of skin (hyperkeratosis) usually around the age of one to five years.

  • These patches are usually confined to the undersides of the hands and feet, but may spread to the knees and elbows.

  • Rarely, the upper portions of the hands and feet, the eyelids, the lips, the cheeks, and/or other areas of the body may also be affected.

  • Affected skin may be unusually red and thick, but can vary in color and texture. Skin lesions may worsen in the cold and walking may be painful.

  • In rare instances, cysts may form on the eyelids later in life.

  • Affected individuals may have frequently recurring, pus producing (pyogenic) skin infections.

  • Some individuals may be at risk for other infections including liver abscesses, Infection of hair follicles (furunculosis), respiratory tract infections, and hidradenitis supportiva, a condition characterized by swollen, painful lesions occurring in the armpit, groin, anal and breast regions.

Diagnosis of Papillon Lefevre Syndrome

  • The diagnosis of Papillon-Lefèvre syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings.

  • In some instances, skin abnormalities may be apparent at birth (congenital) or during infancy including characteristic skin abnormalities on the palms of the hands and the soles of the feet.

  • Molecular genetic testing can confirm a diagnosis.

  • Molecular genetic testing can detect alterations in the CTSC gene known to cause Papillon-Lefèvre syndrome, but is available only as a diagnostic service at specialized laboratories.

Treatment of Papillon Lefevre Syndrome

  • Treatment is directed toward the specific symptoms that are apparent in each individual.

  • Treatment may require the coordinated efforts of a team of specialists.

  • Pediatricians, surgeons, physicians who evaluate and treat skin problems (dermatologists), dentist, dental surgical team, which includes a pediatric dentist, a specialist in treating disorders affecting the area supporting and surrounding the teeth (periodontist), and a specialist in the restoration and replacement of teeth (prosthodontist), and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment.

  • Genetic counseling may be of benefit for affected individuals and their families.

  • Psychosocial support is recommended for the entire family as well.

diseases treatments syndromes disorders health papillon-lefevre-syndrome

Subscribe For More Content