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
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
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
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 ...