Papillon-Lefèvre Syndrome

Congenital hyperkeratosis of palms and soles appearing within first 4 years of life. Usually diffuse type, seldom punctate type, and generally not severe. Other features include severe periodontal disease and calcification of the choroid plexus and tentorium.

Keratosis Palmoplantaris with Periodontopathy; Palmoplantar Ectodermal Dysplasia type IV.

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

Four cases per 1 million live births.

Autosomal recessive, maps to the long arm of chromosome 11

Belongs to the very large group of palmoplantar keratoses, which comprises a number of different clinical entities with both hereditary and acquired forms.

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. The genetic determination is the only accurate diagnostic.

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 helps to keep definitive denture.

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.

A special attention must be given 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 of the hand and the feet with poor healing of the skin, it would be better to avoid intravenous access placement in these locations.

These patients are often being treated with retinoid compounds and may present typical status of hypervitaminosis A. No interactions are known with anesthetic products however, neurological and liver side-effects are possible.

Mal de Meleda (Maleda Syndrome; Keratosis Extremitatum Hereditaria Trangrediens et Progrediens Syndrome): This is a rare medical condition with a prevalence of 1 case in 100,000 population. It is characterized by diffuse, thick keratoderma with a prominent erythematous border that spreads onto the dorsa of the hands and the feet, constricting bands around digits resulting in spontaneous amputation. Other clinical features may include well-circumscribed psoriasis-like plaques or lichenoid patches on the knees and the elbows, hyperhidrosis, periorbital erythema and hyperkeratosis, nail changes (koilonychia, subungual hyperkeratosis), and lingua plicata, syndactyly, hair on the palms and the soles, high-arched palate, and left-handedness.