Papillon-Lefèvre Syndrome

At a glance

Congenital hyperkeratosis of palms and soles appearing within first 4 years of life. Other features include severe periodontal disease, premature loss of dentition, and calcification of the choroid plexus and tentorium.

Synonyms

Keratosis Palmoplantaris with Periodontopathy; Palmoplantar Ectodermal Dysplasia Type IV.

History

First described by M. M. Papillon and P. Lefèvre, French dermatologists, in 1924.

Incidence

Estimated 1:250,000 to 1:1,000,000. No ethnic or sexual preponderance.

Genetic inheritance

Autosomal recessive.

Pathophysiology

Associated with mutations in the CTSC gene on 11q14.2. This gene encodes for Cathepsin C (dipeptidyl aminopeptidase I) and expressed at high levels in polymorphonuclear leukocytes and alveolar macrophages. Defects lead to decreased bactericidal function leading to chronic gingival inflammation and hyperkeratosis.

Diagnosis

The periodontosis is the main aspect of this illness with the association of palmoplantar keratoses. May be present at birth but become obvious after 6 months of age.

Clinical aspects

Belongs to the very large group of palmoplantar keratoses, which comprises a number of different clinical entities with both hereditary and acquired forms. Periodontosis, premature loss of primary and adult teeth, hypodontia. Hyperkeratosis palmoplantaris with transgression onto the elbows and the knees, as well as other areas, hypotrichosis, nail fragility, ectopic intracranial (essentially dura mater) calcifications, eyelid cysts. May be associated with mental retardation, deafness, retardation of skeletal maturation, osteoporosis, arachnodactyly, and, rarely, acroosteolysis. The periodontosis is associated with an elevated rate of cutaneous abscesses and pyogenic infections of internal organs (liver, spleen mainly). No constant association has been found with immunologic disorders. Patients affected with autosomal dominant palmoplantar keratosis often present with malignancies of the esophagus and/or other malignancies (lymphomas, pancreas, breast, etc). This feature may be associated with severe stricture of the esophagus in childhood. In the absence of genetic differential diagnosis, palmoplantar keratosis must be considered. Aggressive dental treatment and retinoid medication help to keep definitive denture.

Precautions before anesthesia

Evaluate the gravity of periodontosis and the stability of the residual dentition. Check the infectious status to eliminate the clinical evidence of pyogenic infection (white blood cell count, fever, tenderness of the abdomen, abscesses in the mouth). Estimate the importance of acroosteolysis, if present. A careful evaluation of the medication taken by the patient must be obtained, because the use of retinoid drugs may lead to hypervitaminose A and potential neurological and liver complications.

Anesthetic considerations

Particular attention must be paid during airway management (insertion of oral airway or laryngeal mask airway, endotracheal intubation) because of the fragility of the teeth and the periodontosis. Because some cases involve the dorsal part ...